Molecular genetic analysis of McArdle's disease in Spanish patients.
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 and six were heterozygous for the nonsense mutation at codon 49 (R49X). Our findings indicate that the R49X mutation, which is common in English and American patients, is also present in Spanish patients with McArdle's disease, but at a lower frequency.
Department of Neurology, Columbia College of Physicians and Surgeons, New York, NY 10032, USA.
A L
AL
Andreu
C
C
Bruno
J
J
Gamez
S
S
Shanske
C
C
Cervera
C
C
Navarro
M A
MA
Arbos
L
L
Tamburino
S
S
Schwartz
S
S
DiMauro
D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000208:ethnology* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D013030:Spain / Q000453:epidemiology