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Autosomal recessive limb-girdle muscular dystrophy type 2N

MONDO:0013162

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.

Also known as: LGMD-POMT2 related, LGMD2N, MDDGC2, POMT2 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2, limb-girdle muscular dystrophy type 2N, muscular dystrophy, limb-girdle, type 2N, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2

7 clinical trials for this condition and its sub-types, 1 tagged with Autosomal recessive limb-girdle muscular dystrophy type 2N itself.

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