Clinical utility gene card for McArdle disease.
Eur J Hum Genet
; 26(5): 758-764, 2018 05.
Article
em En
| MEDLINE
| ID: mdl-29371640
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) inâ diagnostic,â predictive andâ prenatal settings and forâ risk assessment in relatives.
Texto completo:
1
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