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Genetic diseases of muscle
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Genetic diseases of muscle
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
author name string
Kathryn R Wagner
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
publication date
1 August 2002
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
published in
Neurologic Clinics
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
volume
20
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
page(s)
645-678
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
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Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy
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Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy
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Myotilin is mutated in limb girdle muscular dystrophy 1A
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Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors
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Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
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Crossref
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7 January 2021
based on heuristic
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Calpainopathy-a survey of mutations and polymorphisms
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Crossref
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7 January 2021
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Calpains and muscular dystrophies
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Crossref
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7 January 2021
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Making sense of the limb-girdle muscular dystrophies
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
1 reference
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Crossref
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7 January 2021
based on heuristic
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A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
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Crossref
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7 January 2021
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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
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Crossref
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7 January 2021
based on heuristic
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A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy
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7 January 2021
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Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients
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based on heuristic
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Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
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Crossref
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7 January 2021
based on heuristic
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Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
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Crossref
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7 January 2021
based on heuristic
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The heart in limb girdle muscular dystrophy.
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of the Syrian hamster cardiomyopathy gene.
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Telethonin, a novel sarcomeric protein of heart and skeletal muscle
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hearing loss in facioscapulohumeral muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium
1 reference
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Crossref
reference URL
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7 January 2021
based on heuristic
inferred from DOI database lookup
Emery-Dreifuss muscular dystrophy - a 40 year retrospective
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear inclusions in oculopharyngeal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Triplet repeat expansion in neuromuscular disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy--a multigene disorder.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
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7 January 2021
based on heuristic
inferred from DOI database lookup
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Fukuyama congenital muscular dystrophy story
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the human ryanodine receptor gene associated with central core disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Malignant hyperthermia and central core disease: disorders of Ca2+ release channels
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ryanodine receptor mutations in malignant hyperthermia and central core disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotubular Myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nemaline myopathy: a clinical study of 143 cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Overview of distal myopathies: from the clinical to the molecular
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic linkage of Welander distal myopathy to chromosome 2p13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late onset hereditary distal myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Distal myopathies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Distal myopathy with rimmed vacuole formation. A follow-up study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Desmin-related myopathies in mice and man.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0733-8619%2802%2900002-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0733-8619(02)00002-6
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
PubMed ID
12432825
1 reference
stated in
Europe PubMed Central
PubMed ID
12432825
retrieved
5 August 2017
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