Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834896 | Molecular Genetics and Metabolism | 2005 | 4 Pages |
Abstract
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 2Â 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.
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Authors
Paul J. Isackson, Mark Tarnopolsky, Georgirene D. Vladutiu,