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Up to: Autosomal recessive limb-girdle muscular dystrophy · Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan · Muscular dystrophy-dystroglycanopathy, type C
Limb-girdle muscular dystrophy due to POMK deficiency
Limb-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.
This condition has no sub-types.