Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands-Reference-Cited by-同舟云学术

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

Published:2002-12 Issue:10 Volume:12 Page:984-993
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Pepe Guglielmina,Bertini Enrico,Bonaldo Paolo,Bushby Kate,Giusti Betti,de Visser Marianne,Guicheney Pascale,Lattanzi Giovanna,Merlini Luciano,Muntoni Francesco,Nishino Ichizo,Nonaka Ikuya,Yaou Rabah Ben,Sabatelli Patrizia,Sewry Caroline,Topaloglu Haluk,van der Kooi Anneke

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference17 articles.

1. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees;Bethlem;Brain,1976

2. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures;Jöbsis;Brain,1999

3. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families;Merlini;Neuromuscul Disord,1994

4. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures;Jöbsis;Nat Genet,1996

5. Missense mutation in a von Willebrand factor type A domain of the α?3 (VI) collagen gene (COL6A3) in a family with Bethlem myopathy;Pan;Hum Mol Genet,1998

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