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
收藏
页码：S139 / S139
页数：1
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