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GENATLAS PHENOTYPE

last update : 12-01-2011

Symbol	LGMD2Q
Location	8q24
Name	limb girdle muscular dystrophy 2 Q
Corresponding gene	PLEC
Main clinical features	onset in early childhood and shows very slow progress until the late teens muscular dystrophies with predominantly proximal or generalized progressive muscle weakness of symmetric nature muscle biopsy showed dystrophic features with variation in fiber size, internal nuclei, scattered basophilic and few necrotic fibers, and mild endomysial fibrosis
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. mutation in plectin 1f, altering the linkage between the sarcolemma and sarcomere, which could affect the structural organization of the myofibers (PMID: 21109228 )