sarcoglycanopathy
MONDO:0016140Mondo
Findings
No curated finding names sarcoglycanopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016140), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: sarcoglycanopathy
- Also called
- qualitative or quantitative defects of sarcoglycan