Clinical utility gene card for McArdle disease

被引：4

作者：

Taylor, Rhonda L. ^{[1
,2
]}

Davis, Mark ^{[3
]}

Turner, Emma ^{[1
,2
]}

Brull, Astrid ^{[4
]}

Pinos, Tomas ^{[5
,6
]}

Cabrera, Macarena ^{[7
,8
]}

Nowak, Kristen J. ^{[2
,9
,10
]}

机构：

[1] Univ Western Australia, Fac Hlth & Med Sci, Ctr Med Res, Perth, WA 6009, Australia

[2] QEII Med Ctr, Harry Perkins Inst Med Res, QQ Block, Nedlands, WA 6009, Australia

[3] QEII Med Ctr, Dept Diagnost Genom, Neurogenet Lab, PP Block, Nedlands, WA 6009, Australia

[4] UPMC Univ Paris 06, Sorbonne Univ, INSERM UMRS974, CNRS FRE3617,Ctr Res Myol, F-75013 Paris, France

[5] Vall dHebron Res Inst, Mitochondrial Pathol & Neuromuscular Disorders La, Barcelona, Spain

[6] Ctr Invest Biomed Red Enfermedades Raras, Barcelona, Spain

[7] Hosp Univ Virgen del Rocio, Dept Neurol, Seville 41013, Spain

[8] Hosp Univ Virgen del Rocio, Inst Biomed Sevilla, Seville 41013, Spain

[9] Univ Western Australia, Sch Biomed Sci, Fac Hlth & Med Sci, Perth, WA 6009, Australia

[10] Off Populat Hlth Genom, Publ & Aboriginal Hlth Div, Dept Hlth, East Perth, WA 6004, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷 / 05期

基金：

澳大利亚研究理事会;

关键词：

GLYCOGEN-PHOSPHORYLASE GENE; MYOPHOSPHORYLASE DEFICIENCY; MUSCLE; EXERCISE; MUTATIONS; EXPRESSION; PHENOTYPE; CODON; RNA;

D O I：

10.1038/s41431-017-0070-6

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

[No abstract available]

引用

页码：758 / 764

页数：7

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