(Q37426320)

20 August 2017

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title

Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (English)

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20 August 2017

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Umbertina Conti Reed

1

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20 August 2017

publication date

1 March 2009

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Arquivos de Neuro-Psiquiatria

20 August 2017

published in

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20 August 2017

volume

67

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20 August 2017

issue

1

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20 August 2017

page(s)

144-168

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The congenital muscular dystrophies in 2004: a century of exciting progress

20 August 2017

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

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Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

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Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

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Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

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New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

21 January 2018

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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

21 January 2018

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Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

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Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1

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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

21 January 2018

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Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

21 January 2018

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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

21 January 2018

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De novo LMNA mutations cause a new form of congenital muscular dystrophy

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21 January 2018

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Congenital muscular dystrophy

21 January 2018

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Mutations in the integrin alpha7 gene cause congenital myopathy

21 January 2018

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

21 January 2018

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External ophthalmoplegia in neuromuscular disorders: case report and review of the literature

21 January 2018

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Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.

21 January 2018

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Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy

21 January 2018

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An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

21 January 2018

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Cardiac involvement in Fukuyama-type congenital muscular dystrophy.

21 January 2018

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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

21 January 2018

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Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy.

21 January 2018

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The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review

21 January 2018

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Primary myopathies and the heart

21 January 2018

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Muscle MRI in inherited neuromuscular disorders: past, present, and future

21 January 2018

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

21 January 2018

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LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

21 January 2018

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Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.

21 January 2018

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Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain

21 January 2018

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Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

21 January 2018

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Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases

21 January 2018

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Clinical and molecular study in congenital muscular dystrophy with partial laminin alpha 2 (LAMA2) deficiency.

21 January 2018

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Localization of the laminin alpha 2 chain in normal human skeletal muscle and peripheral nerve: an ultrastructural immunolabeling study

21 January 2018

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Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging

21 January 2018

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Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging

21 January 2018

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Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

21 January 2018

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Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

21 January 2018

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Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy

21 January 2018

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Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level

21 January 2018

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Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

21 January 2018

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Collagen VI related muscle disorders

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A refined diagnostic algorithm for Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

21 January 2018

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Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations

21 January 2018

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Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

21 January 2018

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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

21 January 2018

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A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

21 January 2018

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Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

21 January 2018

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

21 January 2018

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Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

21 January 2018

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Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

21 January 2018

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Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

21 January 2018

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Congenital muscular dystrophies: new aspects of an expanding group of disorders

21 January 2018

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

21 January 2018

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Glycosylation defects in muscular dystrophies

21 January 2018

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An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

21 January 2018

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POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease

21 January 2018

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The Fukuyama congenital muscular dystrophy story

21 January 2018

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21 January 2018

Walker-Warburg syndrome

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Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

21 January 2018

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New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

21 January 2018

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21 January 2018

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The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

21 January 2018

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21 January 2018

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A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

21 January 2018

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Expanding the clinical spectrum of POMT1 phenotype.

21 January 2018

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Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

21 January 2018

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POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

21 January 2018

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Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

21 January 2018

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Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene.

21 January 2018

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Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

21 January 2018

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Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome

21 January 2018

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Glyc-O-genetics of Walker-Warburg syndrome

21 January 2018

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

21 January 2018

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Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents

21 January 2018

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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

21 January 2018

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Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies

21 January 2018

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Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration

21 January 2018

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Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations.

21 January 2018

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A new mutation of the fukutin gene in a non-Japanese patient

21 January 2018

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Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy

21 January 2018

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Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.

21 January 2018

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Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD).

21 January 2018

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Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy.

21 January 2018

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Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy

21 January 2018

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Prenatal diagnosis of Fukuyama congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Congenital muscular dystrophy with eye and brain malformations in six Dutch patients

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

POMGnT1 gene alterations in a family with neurological abnormalities

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

21 January 2018

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Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Diagnostic criteria for Walker-Warburg syndrome

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype

21 January 2018

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https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

21 January 2018

1 reference

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Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies

21 January 2018

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The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries

21 January 2018

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A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

21 January 2018

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Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

21 January 2018

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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

21 January 2018

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Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern

21 January 2018

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Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

21 January 2018

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Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

21 January 2018

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Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

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21 January 2018

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SEPN1: associated with congenital fiber-type disproportion and insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Absence of integrin alpha 7 causes a novel form of muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Human laminopathies: nuclei gone genetically awry

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

"Laminopathies": a wide spectrum of human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Merosin-positive congenital muscular dystrophy: a large inbred family

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Ventilator management for neuromuscular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Longterm noninvasive ventilation in children and adolescents with neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Respiratory function assessment and intervention in neuromuscular disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Respiratory support for the severely handicapped child with neuromuscular disease: ethics and practicality

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Developing an interdisciplinary palliative care plan for the patient with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Feeding problems in merosin deficient congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A Novel Form of Familial Congenital Muscular Dystrophy in Two Adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Laminin α2 deficiency and muscular dystrophy; genotype-phenotype correlation in mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2009000100038

10.1590/S0004-282X2009000100038

21 January 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference