MeSH Browser

MeSH Supplementary: Bethlem myopathy
Unique ID: C535436
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535436
Entry Term(s): Benign Congenital Muscular Dystrophy; Benign Congenital Myopathy with Contractures; Muscular dystrophy, benign congenital; Myopathy, benign congenital, with contractures
Registry Numbers: 0
Heading Mapped to: *Contracture; Muscular Dystrophies / congenital
Frequency: 54
Note: A hereditary myopathy characterized by skeletal muscle weakness and contractures of the finger, wrist, and ankle joints. Onset can be at any age; affected children may be delayed in reaching developmental milestones and most patients over age 50 have difficulty walking without assistance. Skin abnormalities such as follicular hyperkeratosis may occur in some cases. Mutations in the COL6A1, COL6A2, and COL6A3 genes have been identified. OMIM: 158810
Date of Entry: 2010/08/25
Revision Date: 2015/08/17

Bethlem myopathy MeSH Supplementary Concept Data 2025