Identifying the disease-causing variant in a large family, with a late-onset dominant distal myopathy

被引：0

作者：

Turku, T. ^{[1
]}

Savarese, M. ^{[1
]}

Johari, M. ^{[1
,2
]}

Soininen, M. ^{[1
]}

Hoischen, A. ^{[3
,4
,5
]}

Steehouwer, M. ^{[3
]}

Roos, A. ^{[6
,7
]}

Preusse, C. ^{[8
,9
,10
,11
,12
]}

Stenzel, W. ^{[8
,9
,10
,11
]}

Wallgren-Pettersson, C. ^{[1
]}

Pelin, K. ^{[1
]}

Udd, B. ^{[1
]}

Hackman, P. ^{[1
]}

机构：

[1] Folkhalsan Res Ctr, Helsinki, Finland

[2] Univ Western Australia, Harry Perkins Inst Med Res, Ctr Med Res, Nedlands, WA, Australia

[3] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Radboud Expertise Ctr Immunodeficiency & Autoinfl, Dept Internal Med,Radboud Inst Mol Life Sci, Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Infect Dis RCI, Nijmegen, Netherlands

[6] Univ Duisburg Essen, Univ Childrens Hosp, Pediat Neurol, Fac Med, Essen, Germany

[7] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

[8] Charite Univ Med Berlin, Dept Neuropathol, Berlin, Germany

[9] Free Univ Berlin, Berlin, Germany

[10] Humboldt Univ, Berlin, Germany

[11] Berlin Inst Hlth, Berlin, Germany

[12] Charite Univ Med Berlin, Dept Neuropediat, Berlin, Germany

来源：

NEUROMUSCULAR DISORDERS | 2024年 / 43卷

关键词：

D O I：

10.1016/j.nmd.2024.07.426

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

63P

引用

页数：2

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