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Two novel mutations in the myophosphorylase gene in a patient with McArdle disease
Author(s) -
Deschauer Marcus,
Hertel Kathrin,
Zierz Stephan
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10261
Subject(s) - missense mutation , nonsense mutation , genetics , exon , mutation , silent mutation , biology , gene
We identified two novel mutations in exon 2 of the myophosphorylase gene in a 33‐year‐old German women with McArdle disease. The patient was compound heterozygous for a novel nonsense mutation at codon 84 changing tyrosine to stop codon (Y84X) and for a novel missense mutation at codon 93 changing arginine to tryptophan (R93W). These mutations are the first to be described in exon 2 and expand the genetic heterogeneity in patients with McArdle disease. Muscle Nerve 27: 105–107, 2003