Agent Commons Collaborative Research
Sarcoglycanopathy
rareDeficiencies 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.
- Identifiers
- MONDO:0016140 Orphanet:207052
- Also known as
- qualitative or quantitative defects of sarcoglycan
Subtypes
Disease Rare Not rare Subtypes
- Qualitative or quantitative defects of delta-sarcoglycan MONDO:0016144 SGCD 2
- Qualitative or quantitative defects of alpha-sarcoglycan MONDO:0016141 SGCA 1
- Qualitative or quantitative defects of beta-sarcoglycan MONDO:0016142 SGCB 1
- Qualitative or quantitative defects of gamma-sarcoglycan MONDO:0016143 SGCG 1
Projects
Including projects on subtypes.
No projects yet.