Two novel mutations in the myophosphorylase gene in a patient with McArdle disease

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 a...

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Bibliographic Details
Published in:Muscle & nerve 2003-01, Vol.27 (1), p.105-107
Main Authors: Deschauer, Marcus, Hertel, Kathrin, Zierz, Stephan
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Codon, Nonsense
Codon, Terminator - genetics
DNA Mutational Analysis
Errors of metabolism
Female
genetic heterogeneity
Glycogen Phosphorylase, Muscle Form - genetics
Glycogen Storage Disease Type V - genetics
glycogenosis type V
Humans
McArdle disease
Medical sciences
Metabolic diseases
mutation
myopathy
myophosphorylase
Pedigree
Polymorphism, Restriction Fragment Length
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Summary: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
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.10261