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

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

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.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

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References

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Clinical utility gene card for McArdle disease

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Clinical utility gene card for McArdle disease

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