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GENATLAS PHENOTYPE

last update : 6/07/2006

Symbol	GSD5B
Location	Xq13.1
Name	glycogen storage disease, type Vb, muscular
Other name(s)	phosphorylase kinase, muscle, alpha-1 subunit muscle glycogenosis
Corresponding gene	PHKA1
Other symbol(s)	PHKA1
Main clinical features	severe exercise intolerance and muscle cramps at muscular biopsy subsarcolemmal and intermyofibrillar accumulation of glycogen
Genetic determination	sex linked
Function/system disorder	metabolism/carbohydrates
	neuromuscular
Type	disease

Gene product

Name	phosphorylase kinase, alpha 1, muscle (PHKA1)

Remark(s)