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

[1] Recessive loss-of-function mutations in ITGA7 cause cardiac arrhythmia with or without structural cardiomyopathy and respiratory muscle weakness
Bugiardini, E.
Phadke, R.
Maas, R.
Pittman, A.
Kusters, B.
Morrow, J.
Parton, M.
Nunes, A.
Akhtar, M.
Syrris, P.
Lopes, L.
Fotelonga, T.
Houlden, H.
Elliott, P.
Hanna, M.
Raaphorst, J.
Burkin, D.
Matthews, E.
NEUROMUSCULAR DISORDERS, 2018, 28 : S131 - S131
[2] ITGA7 MUTATIONS CAUSE CARDIAC ARRHYTHMIA AND RESPIRATORY MUSCLE WEAKNESS
Bugiardini, E.
Phadke, R.
Pittman, A. M.
Morrow, J.
Parton, M.
Houlden, H.
Hanna, M. G.
Burkin, D. J.
Fontelonga, T. M.
Matthews, E.
MUSCLE & NERVE, 2017, 56 : S1 - S1
[3] Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
Koskenvuo, Juha W.
Saarinen, Inka
Ahonen, Saija
Tommiska, Johanna
Weckstrom, Sini
Seppala, Eija H.
Tuupanen, Sari
Kangas-Kontio, Tiia
Schleit, Jennifer
Helio, Krista
Hathaway, Julie
Gummesson, Anders
Dahlberg, Pia
Ojala, Tiina H.
Vepsalainen, Ville
Kytola, Ville
Muona, Mikko
Sistonen, Johanna
Salmenpera, Pertteli
Gentile, Massimiliano
Paananen, Jussi
Myllykangas, Samuel
Alastalo, Tero-Pekka
Helio, Tiina
PLOS ONE, 2021, 16 (02):
[4] Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss
Kevin T. Booth
Amama Ghaffar
Muhammad Rashid
Luke T. Hovey
Mureed Hussain
Kathy Frees
Erika M. Renkes
Carla J. Nishimura
Mohsin Shahzad
Richard J. Smith
Zubair Ahmed
Hela Azaiez
Saima Riazuddin
Human Genetics, 2020, 139 : 1565 - 1574
[5] Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
Pang, Junfeng
Zhang, Shu
Yang, Ping
Hawkins-Lee, Bobbilynn
Zhong, Jixin
Zhang, Yushan
Ochoa, Bernardo
Agundez, Jose A. G.
Voelckel, Marie-Antoinette
Gu, Weikuan
Xiong, Wen-Cheng
Mei, Lin
She, Jin-Xiong
Wang, Cong-Yi
AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (06) : 957 - 962
[6] ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
Wang, Shih-Kai
Choi, Murim
Richardson, Amelia S.
Reid, Bryan M.
Lin, Brent P.
Wang, Susan J.
Kim, Jung-Wook
Simmer, James P.
Hu, Jan C. -C.
HUMAN MOLECULAR GENETICS, 2014, 23 (08) : 2157 - 2163
[7] Loss-of-function mutations of TMEM260 cause autosomal recessive polycystic kidney, cerebral atrophy and cardiac malformation
Keszthelyi, T. M.
Varga, M.
Czimer, D.
Ralbovszki, D.
Ablonczy, L.
Bole, C.
Antignac, C.
Tory, K.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 483 - 484
[8] Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, Niki T.
Antony, Dinu
Maver, Ales
Deardorff, Matthew A.
Gulec, Elif Yylmaz
Gezdirici, Alper
Noethe-Menchen, Tabea
Hoeben, Inga M.
Jelten, Lena
Frank, Diana
Werner, Claudius
Tebbe, Johannes
Wu, Kaman
Goldmuntz, Elizabeth
Cuturilo, Goran
Krock, Bryan
Ritter, Alyssa
Hjeij, Rim
Bakey, Zeineb
Pennekamp, Petra
Dworniczak, Bernd
Brunner, Han
Peterlin, Borut
Tanidir, Cansaran
Olbrich, Heike
Omran, Heymut
Schmidts, Miriam
AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (06) : 995 - 1008
[9] Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset
Brodehl, Andreas
Meshkov, Alexey
Myasnikov, Roman
Kiseleva, Anna
Kulikova, Olga
Klauke, Barbel
Sotnikova, Evgeniia
Stanasiuk, Caroline
Divashuk, Mikhail
Pohl, Greta Marie
Kudryavtseva, Maria
Klingel, Karin
Gerull, Brenda
Zharikova, Anastasia
Gummert, Jan
Koretskiy, Sergey
Schubert, Stephan
Mershina, Elena
Gaertner, Anna
Pilus, Polina
Laser, Kai Thorsten
Sinitsyn, Valentin
Boytsov, Sergey
Drapkina, Oxana
Milting, Hendrik
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (07)
[10] High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia
Li, Lulu
Ma, Li
Sun, Min
Jiao, Jiancheng
Zhang, Yudong
Tang, Yue
Yang, Nan
Kong, Yuanyuan
FRONTIERS IN PEDIATRICS, 2020, 8

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