Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands
- 1 December 2002
- journal article
- Published by Elsevier BV in Neuromuscular Disorders
- Vol. 12 (10), 984-993
- https://doi.org/10.1016/s0960-8966(02)00139-6
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VIProceedings of the National Academy of Sciences, 2001
- 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 collagenNeuromuscular Disorders, 1999
- A Heterozygous Splice Site Mutation in COL6A1 Leading to an In-Frame Deletion of the α1(VI) Collagen Chain in an Italian Family Affected by Bethlem MyopathyBiochemical and Biophysical Research Communications, 1999
- Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contracturesBrain, 1999
- Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathyHuman Molecular Genetics, 1998
- Congenital muscular dystrophies: 1997 updateBrain & Development, 1998
- Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesNature Genetics, 1996
- Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new familiesNeuromuscular Disorders, 1994
- BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCEBrain, 1976
- Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären SystemsZeitschrift für die gesamte Neurologie und Psychiatrie, 1930