Literature DB >> 17217859

Molecular genetics of McArdle's disease.

G Nogales-Gadea1, J Arenas, A L Andreu.   

Abstract

This review highlights recent advances in our understanding of McArdle's disease, including the mechanisms involved in the regulation of the clinical phenotype. The latest molecular genetic studies have demonstrated the genetic heterogeneity of the disorder, with more than 65 mutations identified to date. There is not a specific treatment for McArdle's disease, but some nutritional treatments in combination with aerobic conditioning could improve the quality of life in most patients.

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Year:  2007        PMID： 17217859     DOI： 10.1007/s11910-007-0026-2

Source DB:  PubMed          Journal:  Curr Neurol Neurosci Rep        ISSN： 1528-4042            Impact factor:   5.081


  62 in total

1.  A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.

Authors:  A L Andreu; C Bruno; L Tamburino; J Gamez; S Shanske; C Cervera; C Navarro; S DiMauro
Journal:  Neuromuscul Disord       Date:  1999-05       Impact factor: 4.296

2.  Molecular characterization of McArdle's disease in two large Finnish families.

Authors:  C Bruno; M Löfberg; L Tamburino; H Jänkälä; G M Hadjigeorgiou; A L Andreu; S Shanske; H Somer; S DiMauro
Journal:  J Neurol Sci       Date:  1999-06-01       Impact factor: 3.181

3.  Sweet success--a treatment for McArdle's disease.

Authors:  Anthony A Amato
Journal:  N Engl J Med       Date:  2003-12-25       Impact factor: 91.245

4.  A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

Authors:  J C Rubio; M A Martín; Y Campos; R Auciello; A Cabello; J Arenas
Journal:  Muscle Nerve       Date:  2000-01       Impact factor: 3.217

5.  The second wind phenomenon in McArdle's disease.

Authors:  J P Braakhekke; M I de Bruin; D F Stegeman; R A Wevers; R A Binkhorst; E M Joosten
Journal:  Brain       Date:  1986-12       Impact factor: 13.501

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

Authors:  M Deschauer; J R Opalka; A Lindner; S Zierz
Journal:  Mol Genet Metab       Date:  2001-12       Impact factor: 4.797

7.  Effect of high-dose creatine therapy on symptoms of exercise intolerance in McArdle disease: double-blind, placebo-controlled crossover study.

Authors:  Matthias Vorgerd; Jochen Zange; Rudolf Kley; T Grehl; Anika Hüsing; Matthias Jäger; Klaus Müller; Rolf Schröder; Wilhelm Mortier; Klaus Fabian; Jean-Pierre Malin; Alwin Luttmann
Journal:  Arch Neurol       Date:  2002-01

8.  A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.

Authors:  Paul J Isackson; Mark Tarnopolsky; Georgirene D Vladutiu
Journal:  Mol Genet Metab       Date:  2005-04-07       Impact factor: 4.797

9.  Diagnosis of McArdle's disease by molecular genetic analysis of blood.

Authors:  M el-Schahawi; S Tsujino; S Shanske; S DiMauro
Journal:  Neurology       Date:  1996-08       Impact factor: 9.910

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

Authors:  Marcus Deschauer; Kathrin Hertel; Stephan Zierz
Journal:  Muscle Nerve       Date:  2003-01       Impact factor: 3.217
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  5 in total

Review 1.  Adeno-associated virus-mediated gene therapy for metabolic myopathy.

Authors:  Cathryn S Mah; Meghan S Soustek; A Gary Todd; Angela McCall; Barbara K Smith; Manuela Corti; Darin J Falk; Barry J Byrne
Journal:  Hum Gene Ther       Date:  2013-11       Impact factor: 5.695

2.  Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

Authors:  Gisela Nogales-Gadea; Emma Mormeneo; Inés García-Consuegra; Juan C Rubio; Anna Orozco; Joaquin Arenas; Miguel A Martín; Alejandro Lucia; Anna M Gómez-Foix; Ramon Martí; Antoni L Andreu
Journal:  PLoS One       Date:  2010-10-05       Impact factor: 3.240

Review 3.  Rhabdomyolysis: a genetic perspective.

Authors:  Renata Siciliani Scalco; Alice R Gardiner; Robert Ds Pitceathly; Edmar Zanoteli; Jefferson Becker; Janice L Holton; Henry Houlden; Heinz Jungbluth; Ros Quinlivan
Journal:  Orphanet J Rare Dis       Date:  2015-05-02       Impact factor: 4.123

4.  Absence of p.R50X Pygm read-through in McArdle disease cellular models.

Authors:  Guillermo Tarrasó; Alberto Real-Martinez; Marta Parés; Lídia Romero-Cortadellas; Laura Puigros; Laura Moya; Noemí de Luna; Astrid Brull; Miguel Angel Martín; Joaquin Arenas; Alejandro Lucia; Antoni L Andreu; Jordi Barquinero; John Vissing; Thomas O Krag; Tomàs Pinós
Journal:  Dis Model Mech       Date:  2020-01-13       Impact factor: 5.758

5.  McArdle disease: a case report and review.

Authors:  Alberto Leite; Narciso Oliveira; Manuela Rocha
Journal:  Int Med Case Rep J       Date:  2012-01-20
  5 in total

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