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Autosomal recessive limb-girdle muscular dystrophy type 2U
rareAny autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.
- Identifiers
- MONDO:0014474 OMIM:616052Orphanet:352479
- Part of
- Autosomal recessive limb-girdle muscular dystrophyMuscular dystrophy-dystroglycanopathy, type CMyopathy caused by variation in CRPPA
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD · ISPD autosomal recessive limb-girdle muscular dystrophy · LGMD2U · MDDGC7 · muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
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