Sarcoglycanopathies

Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.

Also Known As:

Adhalinopathies; Adhalinopathy, Primary; Alpha-Sarcoglycanopathies; Alpha-Sarcoglycanopathy; Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2; LGMD2D; Limb-Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency; Muscular Dystrophy, Limb-Girdle, Type 2D; Sarcoglycanopathy; Adhalinopathies, Primary; Alpha Sarcoglycanopathies; Alpha Sarcoglycanopathy; Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2; Limb Girdle Muscular Dystrophy, Type 2D; Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency; Primary Adhalinopathies; Primary Adhalinopathy

Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Atrophic Muscular Disorders: 327
    - Muscular Dystrophies: 5839
      - Limb-Girdle Muscular Dystrophies: 813
        Sarcoglycanopathies: 158
Respiratory Tract Diseases: 6273
- Respiration Disorders: 18
  - Sarcoglycanopathies: 158
Nervous System Diseases: 14737
- Neuromuscular Diseases: 2048
  - Muscular Diseases: 10368
    - Atrophic Muscular Disorders: 327
      - Muscular Dystrophies: 5839
        Limb-Girdle Muscular Dystrophies: 813
        Sarcoglycanopathies: 158
Cardiovascular Diseases: 94258
- Heart Diseases: 26486
  - Cardiomyopathies: 19680
    - Sarcoglycanopathies: 158
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Muscular Dystrophies: 5839
    - Limb-Girdle Muscular Dystrophies: 813
      - Sarcoglycanopathies: 158

Jéssica R Maximino Selected Research

Jéssica R Maximino Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure