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Autosomal recessive limb-girdle muscular dystrophy type 2N
rareAutosomal 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.
- Identifiers
- MONDO:0013162 OMIM:613158Orphanet:206559
- Part of
- Autosomal recessive limb-girdle muscular dystrophyMuscular dystrophy-dystroglycanopathy, type CMyopathy caused by variation in POMT2Qualitative or quantitative defects of protein O-mannosyltransferase 2
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2 · LGMD-POMT2 related · LGMD2N · limb-girdle muscular dystrophy type 2N · MDDGC2
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