A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing that the proband was a compound heterozygous for the common "caucasian" mutation (R49X) and a new nonsense mutation (Y52X), both within exon 1. The new point mutation, a C-to-G transversion at codon 52, converts an encoded tyrosine to a stop codon. Our study confirms that the R49X is also present in the Greek population. The Y52X may represent a private mutation or a common mutation among Greeks. Our data further expand the already remarkable genetic heterogeneity of McArdle's disease. The prevalence of the Y52X mutation in Greek patients with McArdle's disease remains to be determined.
Hadjigeorgiou
Georgios M
GM
Department of Neurology, University of Thessaly, Larissa, Greece.
Papadimitriou
Alexandros
A
Musumeci
Olimpia
O
Paterakis
Konstantinos
K
Flabouriari
Konstantina
K
Shanske
Sara
S
DiMauro
Salvatore
S
D000328:Adult; D018389:Codon, Nonsense; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D005080:Exercise Test; D017079:Exercise Tolerance / Q000235:genetics; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics*; D006115:Greece; D006579:Heterozygote; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000209:etiology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D018389:Codon, Nonsense; D018388:Codon, Terminator; D024982:Glycogen Phosphorylase, Muscle Form