Limb-girdle muscular dystrophy due to POMK deficiency

MONDO:0014489

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.

Also known as: LGMD due to POMK deficiency, MDDGC12, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related

7 clinical trials for this condition and its sub-types, 0 tagged with Limb-girdle muscular dystrophy due to POMK deficiency itself.

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↑ Autosomal recessive limb-girdle muscular dystrophy (18) ↑ Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan (8) ↑ Muscular dystrophy-dystroglycanopathy, type C (1)

Including sub-types (7) Tagged with Limb-girdle muscular dystrophy due to POMK deficiency (0)

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