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Autosomal recessive limb-girdle muscular dystrophy type 2O

MONDO:0013161

Autosomal 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.

Also known as: LGMD-POMGNT1 related, LGMD2O, MDDGC3, POMGNT1 autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1, limb-girdle muscular dystrophy type 2O, muscular dystrophy, limb-girdle, type 2O, muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3

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

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