Clinical utility gene card for McArdle disease

Rhonda L. Taylor; Mark Davis; Emma Turner; Astrid Brull; Tomás Pinos; Macarena Cabrera; Kristen J. Nowak

doi:10.1038/s41431-017-0070-6

Clinical utility gene card for McArdle disease

Rhonda L. Taylor, Mark Davis, Emma Turner, Astrid Brull, Tomás Pinos, Macarena Cabrera, Kristen J. Nowak

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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 segmentsMuscle 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.

Original language	English
Pages (from-to)	758-764
Number of pages	7
Journal	European Journal of Human Genetics
Volume	26
Issue number	5
DOIs	https://doi.org/10.1038/s41431-017-0070-6
Publication status	Published - 1 May 2018

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10.1038/s41431-017-0070-6

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945672/

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title = "Clinical utility gene card for McArdle disease",

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 segmentsMuscle 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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T1 - Clinical utility gene card for McArdle disease

AU - Taylor, Rhonda L.

AU - Davis, Mark

AU - Turner, Emma

AU - Brull, Astrid

AU - Pinos, Tomás

AU - Cabrera, Macarena

AU - Nowak, Kristen J.

PY - 2018/5/1

Y1 - 2018/5/1

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AB - 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 segmentsMuscle 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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JO - European Journal of Human Genetics

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ER -

Clinical utility gene card for McArdle disease

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From Causative Genes to Establishing Therapies for Patients with Neuromuscular Diseases

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Clinical utility gene card for McArdle disease

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