Article
[McArdle's disease in adults: clinical and genetic study].
Medicina clinica - 29 Nov 1997
Olmos J M, Zarrabeitia M T, Valero M C, Figols J, Matorras P, Riancho J A
Abstract excerpt
McArdle's disease is a rare metabolic myopathy resulting from an absence of functional muscle glycogen phosphorylase that is inherited as an autosomal recessive condition. Recent molecular genetic studies have identified more than ten different mutations in patients with McArdle's disease, althou...
Topics
- Adolescent
- Adult
- DNA
- Female
- Genotype
- Glycogen Storage Disease Type V
- Humans
- Male
- Mutation