Clinical Utility Gene Card for McArdle Disease

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2018 Jan 27

PMID 29371640

Citations 2

Authors

Rhonda L Taylor

Mark Davis

Emma Turner

Astrid Brull

Tomas Pinos

Macarena Cabrera

Kristen J Nowak

Affiliations

Soon will be listed here.

Abstract

Name of the disease (synonyms) McArdle disease (glycogenosis type V; glycogen storage disease V (GSDV); PYGM deficiency; muscle glycogen phosphorylase deficiency; myophosphorylase deficiency). OMIM# of the disease #232600. Name of the analysed genes or DNA/chromosome segments Muscle glycogen phosphoryalse (PYGM). OMIM# of the gene(s) #608455.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in the PYGM gene(s) in⊠ diagnostic,⊠ predictive and⊠ prenatal settings and for⊠ risk assessment in relatives.

Citing Articles

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.

Ortuno-Costela M, Cerrada V, Moreno-Izquierdo A, Garcia-Consuegra I, Laberthonniere C, Delourme M Int J Mol Sci. 2022; 23(22).

PMID: 36430443 PMC: 9692531. DOI: 10.3390/ijms232213964.

[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance].

Vidal-Sanahuja R, Ortez-Gonzalez C, Nascimento-Osorio A, Colomer-Oferil J Rev Neurol. 2022; 75(6):129-136.

PMID: 36098446 PMC: 10280752. DOI: 10.33588/rn.7506.2022212.

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