A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease

Authors
Rubio, JC Martin, MA Campos, Y Cabello, A Arenas, J
Citation
Jc. Rubio et al., A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease, NEUROMUSC D, 10(2), 2000, pp. 138-140
Citations number
13
Categorie Soggetti
Neurosciences & Behavoir
Journal title
NEUROMUSCULAR DISORDERS
ISSN journal
09608966 → ACNP
Volume
10
Issue
2
Year of publication
2000
Pages
138 - 140
Database
ISI
SICI code
0960-8966(200002)10:2<138:AMMTIT>2.0.ZU;2-O
Abstract
A heterozygous C-to-A substitution at codon 487, changing a highly conserve d threonine to an asparagine (T487N) was identified in two siblings with Mc Ardle's disease who were also heterozygous for the nonsense mutation at cod on 49 (R49X). Our data further expand the genetic heterogeneity in patients with McArdle's disease. (C) 2000 Elsevier Science B.V. All rights reserved .