PYGM

Gene name: phosphorylase, glycogen, muscle
OMIM ID: 608455
Chromosome location: 11q13.1

Mutations

Disease/Phenotype	McArdle disease
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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