MeSH Browser

MeSH Supplementary: Scleroatonic muscular dystrophy
Unique ID: C537521
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537521
Entry Term(s): Late onset scleroatonic familial myopathy; Muscular Dystrophy, Scleroatonic; Ullrich congenital muscular dystrophy; Ullrich congenital muscular dystrophy 1; Ullrich disease; Ullrich scleroatonic muscular dystrophy
Heading Mapped to: *Muscular Dystrophies; *Sclerosis
Frequency: 60
Note: A genetically heterogeneous hereditary form of muscular dystrophy that is characterized by multiple CONTRACTURES; HYPOTONIA; HIP DISLOCATION and TORTICOLLIS beginning in infancy. RESPIRATORY INSUFFICIENCY and PNEUMONIA are also common. Mutations in the COL6A1, COL6A2, and COL6A3 genes have been identified. OMIM: 254090
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Scleroatonic muscular dystrophy MeSH Supplementary Concept Data 2024