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GENATLAS PHENOTYPE

last update : 21-01-2009

Symbol	PYGM
Location	11q13.1
Name	glycogen storage disease V
Other name(s)	McArdle disease myophosphorylase deficiency
Corresponding gene	PYGM
Other symbol(s)	GSD5
Main clinical features	begin in young adulthood with exercise intolerance and muscle cramps transient myoglobinuria may occur after exercise, due to rhabdomyolysis persistent and progressive muscle weakness and atrophy with fatty replacement relatively benign disorder, except for possible renal failure as a complication of myoglobinuria
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	phosphorylase, glycogen, muscle (PYGM), myophosphorulase

Remark(s)