Next-generation Sequencing to Estimate the Prevalence of a Great Unknown: McArdle Disease

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2015 Aug 5

PMID 26240973

Citations 5

Authors

Gisela Nogales-Gadea

Tomas Pinos

Antoni L Andreu

Miguel A Martin

Joaquin Arenas

Alejandro Lucia

Affiliations

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Citing Articles

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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?.

Villarreal-Salazar M, Santalla A, Real-Martinez A, Nogales-Gadea G, Valenzuela P, Fiuza-Luces C Mol Metab. 2022; 66:101648.

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The combined prevalence of classified rare rheumatic diseases is almost double that of ankylosing spondylitis.

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Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Garcia-Consuegra I, Blazquez A, Rubio J, Arenas J, Ballester-Lopez A, Gonzalez-Quintana A Genet Med. 2016; 18(11):1128-1135.

PMID: 26913921 DOI: 10.1038/gim.2015.219.

Response to Nogales-Gadea et al.

De Castro M, Biesecker L Genet Med. 2015; 17(8):680-1.

PMID: 26240974 DOI: 10.1038/gim.2015.80.

References

Lucia A, Ruiz J, Santalla A, Nogales-Gadea G, Rubio J, Garcia-Consuegra I . Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry. 2012; 83(3):322-8. DOI: 10.1136/jnnp-2011-301593. View

De Castro M, Johnston J, Biesecker L . Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med. 2015; 17(12):1002-6. PMC: 4561039. DOI: 10.1038/gim.2015.9. View

Nogales-Gadea G, Brull A, Santalla A, Andreu A, Arenas J, Martin M . McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. Hum Mutat. 2015; 36(7):669-78. DOI: 10.1002/humu.22806. View