临床实用基因卡牌：McArdle 病。
Clinical utility gene card for McArdle disease.
机构信息
Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, 6009, Australia.
Harry Perkins Institute of Medical Research, QEII Medical Centre, QQ Block, Nedlands, WA, 6009, Australia.
出版信息
Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25.
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.
疾病名称（同义词）：McArdle 病（糖原贮积症 V 型；糖原贮积症 V（GSDV）；PYGM 缺乏症；肌糖原磷酸化酶缺乏症；肌磷酸化酶缺乏症）。疾病的 OMIM#：#232600。分析的基因或 DNA/染色体片段名称：肌糖原磷酸化酶（PYGM）。基因（s）的 OMIM#：#608455。在诊断、预测和产前情况下，以及在亲属风险评估中，对 PYGM 基因（s）中的变异进行基于 DNA 的检测的分析和临床有效性以及临床实用性的综述。
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