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Clinical utility gene card for McArdle disease.
Taylor, Rhonda L; Davis, Mark; Turner, Emma; Brull, Astrid; Pinos, Tomás; Cabrera, Macarena; Nowak, Kristen J.
Afiliação
  • Taylor RL; Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia.
  • Davis M; Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia.
  • Turner E; Neurogenetics Laboratory, Department of Diagnostic Genomics, QEII Medical Centre, PP Block, Nedlands, WA, 6009, Australia.
  • Brull A; Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia.
  • Pinos T; Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia.
  • Cabrera M; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center of Research in Myology, Paris, 75013, France.
  • Nowak KJ; Mitochondrial Pathology and Neuromuscular Disorders Laboratory, Vall d'Hebron Research Institute, Barcelona, Spain.
Eur J Hum Genet ; 26(5): 758-764, 2018 05.
Article em En | MEDLINE | ID: mdl-29371640
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Doença de Depósito de Glicogênio Tipo V / Testes Genéticos Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Doença de Depósito de Glicogênio Tipo V / Testes Genéticos Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article