Recessive loss-of-function mutations in ITGA7 cause cardiac arrhythmia with or without structural cardiomyopathy and respiratory muscle weakness

被引：0

作者：

Bugiardini, E. ^{[1
]}

Phadke, R. ^{[1
]}

Maas, R. ^{[2
]}

Pittman, A. ^{[1
]}

Kusters, B. ^{[2
]}

Morrow, J. ^{[1
]}

Parton, M. ^{[1
]}

Nunes, A. ^{[3
]}

Akhtar, M. ^{[4
]}

Syrris, P. ^{[4
]}

Lopes, L. ^{[4
]}

Fotelonga, T. ^{[3
]}

Houlden, H. ^{[1
]}

Elliott, P. ^{[4
]}

Hanna, M. ^{[1
]}

Raaphorst, J. ^{[2
]}

Burkin, D. ^{[3
]}

Matthews, E. ^{[1
]}

机构：

[1] UCL Queen Sq Inst Neurol, MRC Ctr Neuromuscular Dis, London, England

[2] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands

[3] Univ Nevada, Reno, NV 89557 USA

[4] UCL Inst Cardiovasc Sci, London, England

来源：

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 2019年 / 45卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P13

引用

页码：35 / 35

页数：1

共 36 条

[31] Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Lahrouchi, Najim
Postma, Alex V.
Salazar, Christian M.
Laughter, Daniel M. De
Tjong, Fleur
Piherova, Lenka
Bowling, Forrest Z.
Zimmerman, Dominic
Lodder, Elisabeth M.
Ta-Shma, Asaf
Perles, Zeev
Beekman, Leander
Ilgun, Aho
Gunst, Quinn
Hababa, Mariam
Skoric-Milosavljevic, Doris
Stranecky, Viktor
Tomek, Viktor
Knijff, Peter de
Leeuw, Rick de
Robinson, Jamille Y.
Burn, Sabrina C.
Mustafa, Hiba
Ambrose, Matthew
Moss, Timothy
Jacober, Jennifer
Niyazov, Dmitriy M.
Wolf, Barry
Kim, Katherine H.
Cherny, Sara
Rousounides, Andreas
Aristidou-Kallika, Aphrodite
Tanteles, George
Ange-Line, Bruel
Denomme-Pichon, Anne-Sophie
Francannet, Christine
Ortiz, Damara
Haak, Monique C.
Harkel, Arend D. J. Ten
Manten, Gwendolyn T. R.
Dutman, Annemiek C.
Bouman, Katelijne
Magliozzi, Monia
Radio, Francesca Clementina
Santen, Gijs W. E.
Herkert, Johanna C.
Brown, H. Alex
Elpeleg, Orly
Hoff, Maurice J. B. van den
Mulder, Barbara
JOURNAL OF CLINICAL INVESTIGATION, 2021, 131 (05):
[32] Loss-of-function variants in POPDC2 cause a novel autosomal recessive syndrome with sinus node disease and AV conduction defects in combination with hypertrophic cardiomyopathy
Nicastro, Michele
Vermeer, Alexa
Postema, Pieter
Bowling, Forrest
Tadros, Rafik
Postma, Alex
Lodder, Elisabeth
van Duijvenboden, Karel
Zwart, Rob
Beekman, Leander
van der Zwaag, Paul
Aguib, Yasmine
Allouba, Mona
Santome, Luis
Deuna, David
Monserrat, Lorenzo
Fortunato, Francesco
Comi, Giacomo
Ronchi, Dario
van Tintelen, Peter
Airola, Michael
Christiaans, Imke
Wilde, Arthur
Wilders, Ronald
Clur, Sally-ann
Verkerk, Arie
Bezzina, Connie R.
Lahrouchi, Najim
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 58 - 59
[33] Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhordtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia
Duquesnoy, Philippe
Escudier, Estelle
Vincensini, Laetitia
Freshour, Judy
Bridoux, Anne-Marie
Coste, Andre
Deschildre, Antoine
de Blic, Jacques
Legendre, Marie
Montantin, Guy
Tenreiro, Henrique
Vojtek, Anne-Marie
Loussert, Celine
Clement, Annick
Escalier, Denise
Bastin, Philippe
Mitchell, David R.
Amselem, Serge
AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (06) : 890 - 896
[34] Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Hardies, Katia
May, Patrick
Djemie, Tania
Tarta-Arsene, Oana
Deconinck, Tine
Craiu, Dana
Helbig, Ingo
Suls, Arvid
Balling, Rudy
Weckhuysen, Sarah
De Jonghe, Peter
Hirst, Jennifer
HUMAN MOLECULAR GENETICS, 2015, 24 (08) : 2218 - 2227
[35] SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death
Shi, Jiaying
Pan, Xueqi
Wang, Zhaokun
Yi, Ming
Xie, Shengyu
Zhang, Xinyue
Tao, Dachang
Yang, Yuan
Liu, Yunqiang
GENE, 2024, 898
[36] Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement
Oates, E.
Yau, K.
Donkervoort, S.
Swanson, L.
Brammah, S.
Topf, A.
Richard, I.
Ferreiro, A.
Hoffman, E.
Bushby, K.
Straub, V.
Udd, B.
Lek, M.
MacArthur, D.
Granzier, H.
Beggs, A.
Bonnemann, C.
North, K.
Davis, M.
Laing, N.
NEUROMUSCULAR DISORDERS, 2016, 26 : S89 - S89

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