Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

被引：0

作者：

De Winter, J. ^{[1
,2
,3
]}

Van de Vondel, L. ^{[1
,2
]}

Bonne, G.

Stojkovic, T. ^{[4
,5
]}

Elouej, S. ^{[4
]}

Grandi, F. ^{[4
]}

Smeriglio, P. ^{[4
]}

Palmio, J. ^{[6
]}

Johari, M. ^{[7
,8
,9
]}

Hackman, P. ^{[7
,8
]}

Savarese, M. ^{[7
,8
]}

Udd, B. ^{[6
,7
,8
,10
]}

Meyer, A. ^{[11
]}

Nicolau, S. ^{[11
]}

Flanigan, K. ^{[11
,12
,13
]}

Waldrop, M. ^{[11
,12
,13
]}

Longman, C. ^{[14
]}

Diaz-Manera, J. ^{[15
,16
]}

Topf, A. ^{[15
,16
]}

Baets, J. ^{[1
,2
,3
]}

机构：

[1] Univ Antwerp, Translat Neurosci, Fac Med & Hlth Sci, Antwerp, Belgium

[2] Univ Antwerp, Inst Born Bunge, Lab Neuromusc Pathol, Antwerp, Belgium

[3] Antwerp Univ Hosp, Dept Neurol, Neuromuscular Ref Ctr, Antwerp, Belgium

[4] Sorbonne Univ, Inst Myol, Ctr Rech Myol, INSERM, Paris, France

[5] Hop La Pitie Salpetriere, AP HP, Inst Myol, Ref Ctr Neuromusc Disorders Nord Est Ile de Franc, Paris, France

[6] Tampere Univ & Univ Hosp, Dept Neurol, Neuromusc Res Ctr, Tampere, Finland

[7] Folkhalsan Res Ctr, Helsinki, Finland

[8] Univ Helsinki, Dept Med & Clin Genet, Medicum, Helsinki, Finland

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

[10] Vaasa Cent Hosp, Dept Neurol, Vaasa, Finland

[11] Nationwide Ch Hosp, Ctr Gene Therapy, Columbus, OH USA

[12] Ohio State Univ, Dept Paediat, Coll Med, Columbus, OH USA

[13] Ohio State Univ, Dept Neurol, Columbus, OH USA

[14] Queen Elizabeth Univ Hosp, West Scotland Ctr Genom Med, Glasgow, Scotland

[15] Newcastle Univ, Translat & Clin Res Inst, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, England

[16] Newcastle Hosp NHS Fdn Trust, Newcastle Upon Tyne, England

来源：

NEUROMUSCULAR DISORDERS | 2023年 / 33卷

关键词：

D O I：

10.1016/j.nmd.2023.07.290

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P158

引用

页码：S139 / S139

页数：1

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