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

[41] Missense mutations of ACTA1 cause dominant congenital myopathy with cores
Kaindl, AM
Krause, S
Rüschendorf, F
Goebel, HH
Koehler, K
Becker, C
Pongratz, D
Müller-Höcker, J
Nürnberg, P
NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 562 - 562
[42] Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Mridul Johari
Jaakko Sarparanta
Anna Vihola
Per Harald Jonson
Marco Savarese
Manu Jokela
Annalaura Torella
Giulio Piluso
Edith Said
Norbert Vella
Marija Cauchi
Armelle Magot
Francesca Magri
Eleonora Mauri
Cornelia Kornblum
Jens Reimann
Tanya Stojkovic
Norma B. Romero
Helena Luque
Sanna Huovinen
Päivi Lahermo
Kati Donner
Giacomo Pietro Comi
Vincenzo Nigro
Peter Hackman
Bjarne Udd
Acta Neuropathologica, 2021, 142 : 375 - 393
[43] Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Johari, Mridul
Sarparanta, Jaakko
Vihola, Anna
Jonson, Per Harald
Savarese, Marco
Jokela, Manu
Torella, Annalaura
Piluso, Giulio
Said, Edith
Vella, Norbert
Cauchi, Marija
Magot, Armelle
Magri, Francesca
Mauri, Eleonora
Kornblum, Cornelia
Reimann, Jens
Stojkovic, Tanya
Romero, Norma B.
Luque, Helena
Huovinen, Sanna
Lahermo, Paivi
Donner, Kati
Comi, Giacomo Pietro
Nigro, Vincenzo
Hackman, Peter
Udd, Bjarne
ACTA NEUROPATHOLOGICA, 2021, 142 (02) : 375 - 393
[44] Missense mutations of ACTA1 cause dominant congenital myopathy with cores
Kaindl, AM
Rüschendorf, F
Krause, S
Goebel, HH
Koehler, K
Becker, C
Pongratz, D
Müller-Höcker, J
Nürnberg, P
Stoltenburg-Didinger, G
Lochmüller, H
Huebner, A
JOURNAL OF MEDICAL GENETICS, 2004, 41 (11) : 842 - 848
[45] Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally
Tajsharghi, Homa
Kimber, Eva
Kroksmark, Anna-Karin
Jerre, Ragnar
Tulinius, Mar
Oldfors, Anders
ARCHIVES OF NEUROLOGY, 2008, 65 (08) : 1083 - 1090
[46] Mutations in amphiphysin 2 (BIN 1) cause outosomal recessive centronuclear myopathy
Toussaint, Anne
Nicot, Anne-Sophie
Mandel, Jean-Louis
Laporte, Jocelyn
M S-MEDECINE SCIENCES, 2007, 23 (12): : 1080 - 1082
[47] Rare ACTN2 frameshift variants resulting in a protein extension cause distal myopathy and Hypertrophic Cardiomyopathy through protein aggregation mechanism
Ranta-Aho, J.
Jonson, P.
Sarparanta, J.
Tasca, G.
Yvorel, C.
Harzallah, I.
Pais, L.
Austin-Tse, C.
Ganesh, V.
O'Leary, M.
Rehm, H.
Savarese, M.
Udd, B.
NEUROMUSCULAR DISORDERS, 2023, 33 : S141 - S141
[48] Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
Savarese, Marco
Vihola, Anna
Jokela, Manu E.
Huovinen, Sanna Pauliina
Gerevini, Simonetta
Torella, Annalaura
Johari, Mridul
Scarlato, Marina
Jonson, Per Harald
Onore, Maria Elena
Hackman, Peter
Gautel, Mathias
Nigro, Vincenzo
Previtali, Stefano Carlo
Udd, Bjarne
NEUROLOGY-GENETICS, 2021, 7 (05)
[49] FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans
Du, Qiumei
Huynh, Larry K.
Coskun, Fatma
Molina, Erika
King, Matthew A.
Raj, Prithvi
Khan, Shaheen
Dozmorov, Igor
Seroogy, Christine M.
Wysocki, Christian A.
Padron, Grace T.
Yates, Tyler R.
Markert, M. Louise
de la Morena, M. Teresa
van Oers, Nicolai S. C.
JOURNAL OF CLINICAL INVESTIGATION, 2019, 129 (11): : 4724 - 4738
[50] Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft, Gianina
Zaharieva, Irina T.
Bortolotti, Carlo A.
Lambrughi, Matteo
Pignataro, Marcello
Borsari, Marco
Sewry, Caroline A.
Phadke, Rahul
Haliloglu, Goknur
Ong, Royston
Goullee, Hayley
Whyte, Tamieka
Manzur, Adnan
Talim, Beril
Kaya, Ulkuhan
Osborn, Daniel P. S.
Forrest, Alistair R. R.
Laing, Nigel G.
Muntoni, Francesco
HUMAN MOLECULAR GENETICS, 2018, 27 (24) : 4263 - 4272

← 1 2 3 4 5 →