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Bethlem myopathy MeSH Supplementary Concept Data 2022


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 Number
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 Preferred
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