Clinical utility gene card for McArdle disease

Rhonda L Taylor^{1

2}, Mark Davis³, Emma Turner^{1

2}, Astrid Brull⁴, Tomás Pinos^{5

6}, Macarena Cabrera⁷, Kristen J Nowak^{8

9

10}

Affiliations

¹ Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia.
² Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia.
³ Neurogenetics Laboratory, Department of Diagnostic Genomics, QEII Medical Centre, PP Block, Nedlands, WA, 6009, Australia.
⁴ Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Paris, 75013, France.
⁵ Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Barcelona, Spain.
⁶ Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.
⁷ Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.
⁸ Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia. kristen.nowak@health.wa.gov.au.
⁹ School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia. kristen.nowak@health.wa.gov.au.
¹⁰ Public and Aboriginal Health Division, Department of Health, Office of Population Health Genomics, East Perth, WA, 6004, Australia. kristen.nowak@health.wa.gov.au.

PMID: 29371640
PMCID: PMC5945672
DOI: 10.1038/s41431-017-0070-6

Clinical utility gene card for McArdle disease

Rhonda L Taylor et al. Eur J Hum Genet. 2018 May.

. 2018 May;26(5):758-764.

doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25.

Authors

Rhonda L Taylor^{1

2}, Mark Davis³, Emma Turner^{1

2}, Astrid Brull⁴, Tomás Pinos^{5

6}, Macarena Cabrera⁷, Kristen J Nowak^{8

9

10}

Affiliations

¹ Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia.
² Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia.
³ Neurogenetics Laboratory, Department of Diagnostic Genomics, QEII Medical Centre, PP Block, Nedlands, WA, 6009, Australia.
⁴ Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Paris, 75013, France.
⁵ Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Barcelona, Spain.
⁶ Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.
⁷ Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.
⁸ Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia. kristen.nowak@health.wa.gov.au.
⁹ School of Biomedical Sciences, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia. kristen.nowak@health.wa.gov.au.
¹⁰ Public and Aboriginal Health Division, Department of Health, Office of Population Health Genomics, East Perth, WA, 6004, Australia. kristen.nowak@health.wa.gov.au.

PMID: 29371640
PMCID: PMC5945672
DOI: 10.1038/s41431-017-0070-6

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.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflict of interest.

References

1. Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA, et al. McArdle disease: update of reported mutations and polymorphisms in the PYGM gene. Hum Mutat. 2015;36:669–78. doi: 10.1002/humu.22806. - DOI - PubMed
1. Gautron S, Daegelen D, Mennecier F, Dubocq D, Kahn A, Dreyfus JC. Molecular mechanisms of McArdle’s disease (muscle glycogen phosphorylase deficiency) J Clin Invest. 1987;79:275–81. doi: 10.1172/JCI112794. - DOI - PMC - PubMed
1. Vieitez I, Teijeira S, Fernandez JM, San Millan B, Miranda S, Ortolano S, et al. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul Disord. 2011;21:817–23. doi: 10.1016/j.nmd.2011.07.002. - DOI - PubMed
1. Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, et al. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat. 2008;29:277–83. doi: 10.1002/humu.20649. - DOI - PubMed
1. Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol. 2008;4:568–77. doi: 10.1038/ncpneuro0913. - DOI - PubMed

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
Other Literature Sources
- scite Smart Citations
Medical
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Clinical utility gene card for McArdle disease

Affiliations

Clinical utility gene card for McArdle disease

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical