A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

Hadjigeorgiou, Georgios M; Papadimitriou, Alexandros; Musumeci, Olimpia; Paterakis, Konstantinos; Flabouriari, Konstantina; Shanske, Sara; DiMauro, Salvatore

« Previous Next »Journal of the Neurological Sciences
Volume 194, Issue 1 , Pages 83-86, 15 February 2002

A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease

Georgios M Hadjigeorgiou
- Department of Neurology, University of Thessaly, Larissa, Greece
- H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
Alexandros Papadimitriou
- Department of Neurology, University of Thessaly, Larissa, Greece
Olimpia Musumeci
- H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
Konstantinos Paterakis
- Department of Neurology, University of Thessaly, Larissa, Greece
Konstantina Flabouriari
- Department of Neurology, University of Thessaly, Larissa, Greece
Sara Shanske
- H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
Salvatore DiMauro
- Corresponding author. Tel.: +1-212-305-1664; fax: +1-212-305-3986
- H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, 4-420 College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA

Received 24 August 2001; accepted 30 October 2001.

Abstract

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.

Keywords: Myophosphorylase gene, McArdle's disease, Nonsense mutation, Cramps, Myoglobinuria, Muscle