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autosomal recessive limb-girdle muscular dystrophy type 2R

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.
Uniprot Description A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
Mondo Term and Equivalent IDs
MONDO:0014129:  autosomal recessive limb-girdle muscular dystrophy type 2R
DOID:0110286: 
Orphanet:363543: 
UMLS:C3809137: