McArdle disease

OMIM:232600
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	PYGM
Reference transcript	NM_005609.2
DNA Change	c.1366G>A
A.A. Change	p.Val456Met
Exon/Intron	exon 11
Mutation Type	substitution
Reference	Mancuso M, Filosto M, Tsujino S, Lamperti C, Shanske S, Coquet M, Desnuelle C, DiMauro S.Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. Arch Neurol. 2003 Oct;60(10):1445-7.

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