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
Rare disease
Projects
Including projects on subtypes.
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