Molecular genetic analysis of McArdle's disease in Spanish patients.

doi:10.1212/wnl.51.1.260

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Article

Molecular genetic analysis of McArdle's disease in Spanish patients.

Neurology - 1 Jul 1998

Andreu A L, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos M A, Tamburino L, Schwartz S, DiMauro S

Abstract excerpt

We analyzed leukocyte DNA of 19 patients from 12 Spanish families with McArdle's disease (myophosphorylase deficiency). In 15 patients, the enzyme defect was documented histochemically in muscle, and in four the diagnosis was based on clinical and laboratory data. Three patients were homozygous a...

Topics

Adult
Alleles
DNA Mutational Analysis
Female
Glycogen Storage Disease Type V
Heterozygote
Homozygote
Humans
Male
Mutation
Spain

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