Article
A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.
Archives of neurology - 1 Jul 2004
Quintans Beatriz, Sanchez-Andrade Amalia, Teijeira Susana, Fernandez-Hojas Roberto, Rivas Eloy, López María José, Navarro Carmen
Abstract excerpt
OBJECTIVE: To investigate the genetic effect of a new mutation found in exon 17 of the myophosphorylase (PYGM) gene as a cause of McArdle disease (also known as type 5 glycogenosis). Patients A Spanish patient with McArdle disease was screened for 3 common mutations in the PYGM gene (R49X, W797R, and G204S), as previously described. The patient was heterozygous for R49X. To find other mutations, the coding...
Topics
- Adult
- Exons
- Female
- Glycogen Phosphorylase, Muscle Form
- Glycogen Storage Disease Type V
- Humans
- Male
- Mutation
- Pedigree
- Sequence Deletion