A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
A Caucasian family appeared to transmit McArdle disease in an autosomal dominant manner and was examined for mutations in the myophosphorylase gene. The asymptomatic father was heterozygous for the R49X mutation in exon 1. The symptomatic mother was a compound heterozygote for R49X and a novel 2 bp deletion in exon 1 causing a frameshift at codon 25 (T25fs). Each of three children manifested symptoms of McArdle disease and was either a compound heterozygote for these two mutations or homozygous for R49X.
Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA.
Paul J
PJ
Isackson
Mark
M
Tarnopolsky
Georgirene D
GD
Vladutiu
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D005838:Genotype; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction
D024982:Glycogen Phosphorylase, Muscle Form