Literature DB >> 11749054

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

M Deschauer1, J R Opalka, A Lindner, S Zierz.   

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. Copyright 2001 Elsevier Science.

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Year:  2001        PMID： 11749054     DOI： 10.1006/mgme.2001.3252

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  4 in total

Review 1.  Molecular genetics of McArdle's disease.

Authors:  G Nogales-Gadea; J Arenas; A L Andreu
Journal:  Curr Neurol Neurosci Rep       Date:  2007-01       Impact factor: 5.081

2.  Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Authors:  M Deschauer; A Morgenroth; P R Joshi; D Gläser; P F Chinnery; J Aasly; H Schreiber; M Knape; S Zierz; M Vorgerd
Journal:  J Neurol       Date:  2007-04-03       Impact factor: 4.849

Review 3.  McArdle disease: molecular genetic update.

Authors:  A L Andreu; G Nogales-Gadea; D Cassandrini; J Arenas; C Bruno
Journal:  Acta Myol       Date:  2007-07

4.  Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Authors:  Güldal Inal-Gültekin; Bahar Toptaş-Hekimoğlu; Zeliha Görmez; Özlem Gelişin; Hacer Durmuş; Bekir Ergüner; Hüseyin Demirci; Mahmut Ş Sağıroğlu; Yeşim Parman; Feza Deymeer; Hülya Yılmaz-Aydoğan; Sadrettin Pençe; Can Ebru Bekircan-Kurt; Ersin Tan; Sevim Erdem-Özdamar; Duran Üstek; Urs Giger; Oğuz Öztürk; Piraye Serdaroğlu-Oflazer
Journal:  Neuromuscul Disord       Date:  2017-06-16       Impact factor: 4.296
  4 in total

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