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scientific article

Language	Label	Description	Also known as
English	Early onset collagen VI myopathies: Genetic and clinical correlations.	scientific article

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scholarly article

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20976770

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14 September 2017

title

Early onset collagen VI myopathies: Genetic and clinical correlations. (English)

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author

Pascale Richard

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Pascale Richard

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2

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Thierry Kuntzer

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Thierry Kuntzer

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Luciano Merlini

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author name string

Laura Briñas

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Susana Quijano-Roy

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Corine Gartioux

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Céline Ledeuil

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Emmanuelle Lacène

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Samira Makri

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Ana Ferreiro

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Svetlana Maugenre

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Haluk Topaloglu

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Göknur Haliloglu

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Isabelle Pénisson-Besnier

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Pierre-Yves Jeannet

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Carmen Navarro

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Annick Toutain

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Denys Chaigne

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Isabelle Desguerre

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Christine de Die-Smulders

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Murielle Dunand

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Bernard Echenne

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Bruno Eymard

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Kim Maincent

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Michèle Mayer

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Ghislaine Plessis

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François Rivier

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Filip Roelens

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Tanya Stojkovic

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Ana Lía Taratuto

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Fabiana Lubieniecki

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Soledad Monges

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Christine Tranchant

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Louis Viollet

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Norma B Romero

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Brigitte Estournet

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Pascale Guicheney

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Valérie Allamand

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publication date

1 October 2010

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published in

Annals of Neurology

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volume

68

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issue

4

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page(s)

511-520

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cites work

Molecular assembly, secretion, and matrix deposition of type VI collagen

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Collagen VI related muscle disorders

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Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems

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

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Autosomal recessive myosclerosis myopathy is a collagen VI disorder

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21 January 2018

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

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Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

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21 January 2018

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

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

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A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

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Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

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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

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Autosomal recessive inheritance of classic Bethlem myopathy

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21 January 2018

Autosomal recessive Bethlem myopathy

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21 January 2018

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

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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21 January 2018

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

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

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Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

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Natural history of Ullrich congenital muscular dystrophy.

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The C5 domain of the collagen VI alpha3(VI) chain is critical for extracellular microfibril formation and is present in the extracellular matrix of cultured cells

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Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

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21 January 2018

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

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Electron-microscopical approach to a structural model of intima collagen

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166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

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

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21 January 2018

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

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

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21 January 2018

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

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https://api.crossref.org/works/10.1002%2FANA.22087

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Identifiers

DOI

10.1002/ANA.22087

1 reference

stated in

Europe PubMed Central

PubMed publication ID

20976770

retrieved

14 September 2017

PubMed publication ID

20976770

1 reference

stated in

Europe PubMed Central

PubMed publication ID

20976770

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14 September 2017

ResearchGate publication ID

47546139

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