Bethlem myopathy

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

Also Known As:

Benign Congenital Muscular Dystrophy; Benign Congenital Myopathy with Contractures; Muscular dystrophy, benign congenital; Myopathy, benign congenital, with contractures

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Contracture: 8558
    - Bethlem myopathy: 127
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Bethlem myopathy: 127
- Joint Diseases: 6509
  - Contracture: 8558
    - Bethlem myopathy: 127
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Bethlem myopathy: 127
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Bethlem myopathy: 127

Yingru Song Selected Research

Yingru Song Research Topics

Disease

Drug/Important Bio-Agent (IBA)