Cardiac and Pulmonary Investigations in Bethlem Myopathy
Authors:
- Anneke J. van der KooiAKAnneke J. van der Kooi
- Willem G. de VoogtWVWillem G. de Voogt
- Enrico BertiniEBEnrico Bertini
- Luciano MerliniLMLuciano Merlini
- F. Beril TalimFTF. Beril Talim
- Rabah Ben YaouRYRabah Ben Yaou
- Andoni UrtzibereaAUAndoni Urtziberea
- Marianne de VisserMVMarianne de Visser
Open Access
- 1 November 2006
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 63 (11) , 1617-1621
Abstract
Bethlem myopathy (Online Mendelian Inheritance in Man [OMIM] 158810) is an autosomal dominantly inherited myopathy that manifests with skeletal muscle weakness and contractures and is caused by mutations in the collagen VI α1 (COL6A1) gene (OMIM 120220), COL6A2 gene (OMIM 120240), or COL6A3 gene (OMIM 120250). The clinical onset is variable. Prenatal onset with decreased fetal movements and neonatal presentation with hypotonia and/or contractures have been described, but onset is more frequent in early childhood with proximal weakness of the legs.1 Adult presentation as late as the sixth decade of life has also been reported.2 Progression is slow and, after the fifth decade of life, about half of the patients need supportive means (eg, a cane, crutches, or a wheelchair) for outdoor mobility.3Keywords
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