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Autosomal recessive limb-girdle muscular dystrophy type 2O
rareAutosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.
- Identifiers
- MONDO:0013161 OMIM:613157Orphanet:206564
- Part of
- Autosomal recessive limb-girdle muscular dystrophyMuscular dystrophy-dystroglycanopathy, type CMyopathy caused by variation in POMGNT1
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1 · LGMD-POMGNT1 related · LGMD2O · limb-girdle muscular dystrophy type 2O · MDDGC3
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