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Limb-girdle muscular dystrophy due to POMK deficiency
rareLimb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
- Identifiers
- MONDO:0014489 OMIM:616094Orphanet:445110
- Causal genes
- POMK
- Part of
- Autosomal recessive limb-girdle muscular dystrophyMuscular dystrophy-dystroglycanopathy, type CQualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
- Also known as
- LGMD due to POMK deficiency · MDDGC12 · muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12
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