A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

Marcus Deschauer; Jens R. Opalka; Alfred Lindner; Stephan Zierz

doi:10.1006/mgme.2001.3252

A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

Marcus Deschauer, Jens R. Opalka, Alfred Lindner, Stephan Zierz

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.

Original language	English
Pages (from-to)	489-491
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	74
Issue number	4
DOIs	https://doi.org/10.1006/mgme.2001.3252
State	Published - 2001
Externally published	Yes

Keywords

McArdle disease
Myophosphorylase
Nonsense mutation

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1006/mgme.2001.3252

Cite this

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title = "A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease",

abstract = "We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.",

keywords = "McArdle disease, Myophosphorylase, Nonsense mutation",

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AU - Deschauer, Marcus

AU - Opalka, Jens R.

AU - Lindner, Alfred

AU - Zierz, Stephan

PY - 2001

Y1 - 2001

N2 - We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.

AB - We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.

KW - McArdle disease

KW - Myophosphorylase

KW - Nonsense mutation

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U2 - 10.1006/mgme.2001.3252

DO - 10.1006/mgme.2001.3252

M3 - Article

C2 - 11749054

AN - SCOPUS:0035694524

SN - 1096-7192

VL - 74

SP - 489

EP - 491

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

Abstract

Keywords

UN SDGs

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