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

共 50 条

[31] Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1
Barnett, Christopher P.
Todd, Emily J.
Ong, Royston
Davis, Mark R.
Atkinson, Vanessa
Allcock, Richard
Laing, Nigel
Ravenscroft, Gianina
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (07) : 1846 - 1849
[32] Brody myopathy associated with novel compound heterozygous ATP2A1 mutations
Walia, Sargun
Su, Xiaowei
NEUROLOGY, 2023, 100 (17)
[33] Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
Duff, Rachael M.
Tay, Valerie
Hackman, Peter
Ravenscroft, Gianina
McLean, Catriona
Kennedy, Paul
Steinbach, Alina
Schoeffler, Wiebke
van der Ven, Peter F. M.
Fuerst, Dieter O.
Song, Jaeguen
Djinovic-Carugo, Kristina
Penttila, Sini
Raheem, Olayinka
Reardon, Katrina
Malandrini, Alessandro
Gambelli, Simona
Villanova, Marcello
Nowak, Kristen J.
Williams, David R.
Landers, John E.
Brown, Robert H., Jr.
Udd, Bjarne
Laing, Nigel G.
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (06) : 729 - 740
[34] Mutations in ACTN2 gene cause a novel form of adult-onset distal myopathy
Savarese, M.
Palmio, J.
Poza, J.
Weinberg, J.
Olive, M.
Cobo, A.
Vihola, A.
Jonson, R.
Sarparanta, J.
Garcia-Bragado, F.
Urtizberea, J.
Hackman, P.
Udd, B.
NEUROMUSCULAR DISORDERS, 2019, 29 : S120 - S121
[35] Heterozygous frameshift variants in hnRNPA2B1 cause a novel oculopharyngodistal muscular dystrophy
Mohassel, P.
Donkervoort, S.
Kim, H.
Foley, A.
Lornage, X.
Foulds, N.
Hammans, S.
Haack, T.
Bohm, J.
Tarnopolsky, M.
Straub, V.
Laporte, J.
Muntoni, F.
Taylor, J.
Bonnemann, C.
NEUROMUSCULAR DISORDERS, 2020, 30 : S47 - S47
[36] Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
Cao, Henian
Alston, Lindsay
Ruschman, Jennifer
Hegele, Robert A.
LIPIDS IN HEALTH AND DISEASE, 2008, 7 (1)
[37] Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia
Henian Cao
Lindsay Alston
Jennifer Ruschman
Robert A. Hegele
Lipids in Health and Disease, 7
[38] MtDNA deletions and not point mutations cause mitochondrial myopathy in PEO with POLG1 mutations
Kollberg, G
Jansson, M
Pérez-Bercoff, Å
Lindberg, C
Holme, E
Moslemi, AR
Oldfors, A
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2004, 1657 : 63 - 63
[39] Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
Pan, Yun-Di
Fu, Jun-Ling
Xiao, Xin-Hua
CHINESE MEDICAL JOURNAL, 2019, 132 (20) : 2508 - 2509
[40] Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
Pan YunDi
Fu JunLing
Xiao XinHua
中华医学杂志英文版, 2019, 132 (20) : 2508 - 2509

← 1 2 3 4 5 →