A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Article Details

Citation

Martin MA, Rubio JC, Campos Y, Ricoy JR, Cabello A, Arenas J

A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Neuromuscul Disord. 2000 Aug;10(6):447-9.

PubMed ID
10899452 [ View in PubMed
]
Abstract

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Glycogen phosphorylase, muscle formP11217Details