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GENATLAS PHENOTYPE

last update : 07-09-2018

Symbol	LGMD2R
Location	2q35
Name	muscular dystrophy, limb-girdle, type 2R
Corresponding gene	DES
Main clinical features	young adult-onset of progressive limb-girdle muscular dystrophy progressive proximal muscle weakness of the arms and legs at age 15-20 years with mild facial muscle weakness and mild scapular winging but severe limb weakness cognition was normal and he had no bulbar symptoms muscle biopsy showed dystrophic features with variation in fiber size, internal nuclei, and fibrosis, but no evidence of myofibrillar disruption or aggregation of abnormal proteins
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)