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Clinical utility gene card for McArdle disease.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2018 May; Vol. 26 (5), pp. 758-764. Date of Electronic Publication: 2018 Jan 25. - Publication Year :
- 2018
-
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.
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 26
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 29371640
- Full Text :
- https://doi.org/10.1038/s41431-017-0070-6