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- B2e244b06d3126932f51c6760c26ea6d0 hasDbXref "Orphanet:267" @default.
- B2e244b06d3126932f51c6760c26ea6d0 type Axiom @default.
- B2e244b06d3126932f51c6760c26ea6d0 annotatedProperty IAO_0000115 @default.
- B2e244b06d3126932f51c6760c26ea6d0 annotatedSource MONDO_0009675 @default.
- B2e244b06d3126932f51c6760c26ea6d0 annotatedTarget "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." @default.