Limb-girdle muscular dystrophy type 2A

An autosomal recessive form of muscular dystrophy primarily affecting the proximal muscles, resulting in difficulty walking. The age at onset varies, but typically occurs in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and CONTRACTURES. Mutations in the CAPN3 gene have been identified. OMIM: 253600

Also Known As:

Calpainopathy; LGMD2; LGMD2A; Leyden-Moebius muscular dystrophy; Limb-girdle muscular dystrophy type 2; Muscular Dystrophy, Limb-Girdle, Type 2; Muscular Dystrophy, Limb-Girdle, Type 2A; Muscular dystrophy, pelvofemoral; Myositis, Eosinophilic

Musculoskeletal Diseases: 719
- Muscular Diseases: 10128
  - Atrophic Muscular Disorders: 320
    - Muscular Dystrophies: 5779
      - Limb-Girdle Muscular Dystrophies: 800
        Limb-girdle muscular dystrophy type 2A: 189
Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Muscular Diseases: 10128
    - Atrophic Muscular Disorders: 320
      - Muscular Dystrophies: 5779
        Limb-Girdle Muscular Dystrophies: 800
        Limb-girdle muscular dystrophy type 2A: 189
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Muscular Dystrophies: 5779
    - Limb-Girdle Muscular Dystrophies: 800
      - Limb-girdle muscular dystrophy type 2A: 189

Miluse Havlová Selected Research

Miluse Havlová Research Topics

Disease

Drug/Important Bio-Agent (IBA)