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GENATLAS PHENOTYPE

last update : 05-03-2010

Symbol	LGMD2L
Location	11p14.3
Name	limb-girdle muscular dystrophy 2L
Corresponding gene	ANO5
Main clinical features	quadriceps myopathy that evolved into an LGMD, with quadriceps femoris asymmetrical atrophy; CK values were variable from normal to 6000 U/l proximal weakness, with prominent asymmetrical quadriceps femoris and biceps brachii atrophy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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