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myotilin Mutation found in second pedigree with LGMD1A
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instance of
scholarly article
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case report
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title
myotilin Mutation found in second pedigree with LGMD1A
(English)
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author
Margaret A. Pericak-Vance
series ordinal
8
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Jeffery M. Vance
object named as
Jeffery Vance
series ordinal
7
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author name string
Michael A Hauser
series ordinal
1
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Cecilia B Conde
series ordinal
2
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Valeria Kowaljow
series ordinal
3
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Guillermo Zeppa
series ordinal
4
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Ana L Taratuto
series ordinal
5
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Udana M Torian
series ordinal
6
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Marcy C Speer
series ordinal
9
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Alberto L Rosa
series ordinal
10
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language of work or name
English
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publication date
December 2002
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published in
American Journal of Human Genetics
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volume
71
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issue
6
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page(s)
1428-32
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cites work
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Myotilin is mutated in limb girdle muscular dystrophy 1A
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Caveolin-3 in muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
7 April 2017
Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
27 September 2017
Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
27 September 2017
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
27 September 2017
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
27 September 2017
Interaction of filamin with f-actin in solution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
27 September 2017
Constitutive and variable regions of Z-disk titin/connectin in myofibril formation: a dominant-negative screen
2 references
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=378586
retrieved
28 November 2018
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F344532
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct interaction of filamin (ABP-280) with the beta 2-integrin subunit CD18
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/12428213
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1086/344532
0 references
Fatcat ID
release_cuzu5hu3f5avrmmvhnzaai2j4e
1 reference
stated in
Fatcat
reference URL
https://api.fatcat.wiki/v0/release/cuzu5hu3f5avrmmvhnzaai2j4e
retrieved
24 November 2022
based on heuristic
mapped directly with Wikidata item
PMC publication ID
378586
0 references
PubMed publication ID
12428213
0 references
ResearchGate publication ID
11039298
0 references
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