TRPV4 mutation causing dominantly inherited scapuloperoneal spinal muscle atrophy

被引：0
|
作者：
Sanaker, P. [1 ]
Bindoff, L. [2 ]
机构：
[1] Haukeland Hosp, Dept Neurol, N-5021 Bergen, Norway
[2] Univ Bergen, Dept Clin Med, Bergen, Norway
来源：
NEUROMUSCULAR DISORDERS | 2015年 / 25卷
关键词：
D O I：
10.1016/j.nmd.2015.06.144
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
G.P.129
引用
收藏
页码：S224 / S224
页数：1
相关论文
共 50 条
  • [1] TRPV4 Mutation related Parkinson's Disease with Scapuloperoneal spinal muscular atrophy
    Deenadayalu, A.
    Paramanandam, V.
    MOVEMENT DISORDERS, 2022, 37 : S558 - S558
  • [2] TRPV4 MUTATION CAUSED CMT2C AND SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY IN A CHINESE FAMILY
    Hu, Jianian
    Lin, Jie
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S164 - S164
  • [3] TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature
    Biasini, F.
    Portaro, S.
    Mazzeo, A.
    Vita, G.
    Fabrizi, G. M.
    Taioli, F.
    Toscano, A.
    Rodolico, C.
    NEUROMUSCULAR DISORDERS, 2016, 26 (4-5) : 312 - 315
  • [4] Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
    Han-Xiang Deng
    Christopher J Klein
    Jianhua Yan
    Yong Shi
    Yanhong Wu
    Faisal Fecto
    Hau-Jie Yau
    Yi Yang
    Hong Zhai
    Nailah Siddique
    E Tessa Hedley-Whyte
    Robert DeLong
    Marco Martina
    Peter J Dyck
    Teepu Siddique
    Nature Genetics, 2010, 42 : 165 - 169
  • [5] A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4
    Fleming, Jason
    Quan, Dianna
    NEUROMUSCULAR DISORDERS, 2016, 26 (12) : 841 - 843
  • [6] Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
    Deng, Han-Xiang
    Klein, Christopher J.
    Yan, Jianhua
    Shi, Yong
    Wu, Yanhong
    Fecto, Faisal
    Yau, Hau-Jie
    Yang, Yi
    Zhai, Hong
    Siddique, Nailah
    Hedley-Whyte, E. Tessa
    DeLong, Robert
    Martina, Marco
    Dyck, Peter J.
    Siddique, Teepu
    NATURE GENETICS, 2010, 42 (02) : 165 - U102
  • [7] Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis
    Velilla, Jose
    Marchetti, Michael Mario
    Toth-Petroczy, Agnes
    Grosgogeat, Claire
    Bennett, Alexis H.
    Carmichael, Nikkola
    Estrella, Elicia
    Darras, Basil T.
    Frank, Natasha Y.
    Krier, Joel
    Gaudet, Rachelle
    Gupta, Vandana A.
    Maas, Richard L.
    Sunyaev, Shamil
    Cassa, Christopher
    Green, Robert
    Goessling, Wolfram
    Haghighi, Alireza
    Fieg, Elizabeth
    MacRae, Calum
    Raychaudhuri, Soumya
    Seidman, Christine
    Patsopolous, Nikolaos
    Soylemez, Onuralp
    NEUROLOGY-GENETICS, 2019, 5 (02)
  • [8] A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
    Chen, Haofeng
    Sun, Chong
    Zheng, Yongsheng
    Yin, Junxiong
    Gao, Mingshi
    Zhao, Chongbo
    Lin, Jie
    BMC NEUROLOGY, 2023, 23 (01)
  • [9] A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review
    Haofeng Chen
    Chong Sun
    Yongsheng Zheng
    Junxiong Yin
    Mingshi Gao
    Chongbo Zhao
    Jie Lin
    BMC Neurology, 23
  • [10] TRPV4 mutations in children with congenital distal spinal muscular atrophy
    Fiorillo, Chiara
    Moro, Francesca
    Brisca, Giacomo
    Astrea, Guja
    Nesti, Claudia
    Balint, Zoltan
    Olschewski, Andrea
    Meschini, Maria Chiara
    Guelly, Christian
    Auer-Grumbach, Michaela
    Battini, Roberta
    Pedemonte, Marina
    Romano, Alessandro
    Menchise, Valeria
    Biancheri, Roberta
    Santorelli, Filippo M.
    Bruno, Claudio
    NEUROGENETICS, 2012, 13 (03) : 195 - 203
12345