Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

被引：0
|
作者：
Hyeon Jin Kim
Young Bin Hong
Jin-Mo Park
Yu-Ri Choi
Ye Jin Kim
Bo Ram Yoon
Heasoo Koo
Jeong Hyun Yoo
Sang Beom Kim
Minhwa Park
Ki Wha Chung
Byung-Ok Choi
机构：
[1] Ewha Womans University,Department of Neurology, School of Medicine
[2] Kongju National University,Department of Biological Science
[3] Ewha Womans University,Department of Pathology, School of Medicine
[4] Ewha Womans University,Department of Radiology, School of Medicine
[5] College of Medicine,Department of Neurology, Kyung Hee University
[6] Ewha Womans University,Department of Microbiology
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Charcot-Marie-Tooth disease (CMT); Lower motor neuron disease (LMND); (; ); Exome; Neuropathy;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
    Kim, Hyeon Jin
    Hong, Young Bin
    Park, Jin-Mo
    Choi, Yu-Ri
    Kim, Ye Jin
    Yoon, Bo Ram
    Koo, Heasoo
    Yoo, Jeong Hyun
    Kim, Sang Beom
    Park, Minhwa
    Chung, Ki Wha
    Choi, Byung-Ok
    ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
  • [2] Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
    Chung, Ki W.
    Hyun, Young S.
    Lee, Hae J.
    Jung, Hwa-Kyoung
    Koo, Heasoo
    Yoo, Jeong H.
    Kim, Sang-Beom
    Park, Chan I.
    Kim, Han N.
    Choi, Byung-Ok
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 (02) : 143 - 146
  • [3] GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease
    Figueiredo, Fernanda Barbosa
    Silva, Wilson Araujo, Jr.
    Giuliatti, Silvana
    Tomaselli, Pedro Jose
    Lourenco, Charles Marques
    Gouvea, Silmara de Paula
    Covaleski, Anna Paula Paranhos Miranda
    Hallak, Jaime E.
    Marques, Wilson, Jr.
    NEUROMUSCULAR DISORDERS, 2021, 31 (06) : 505 - 511
  • [4] Is overwork weakness relevant in Charcot-Marie-Tooth disease?
    Piscosquito, G.
    Reilly, M. M.
    Schenone, A.
    Fabrizi, G. M.
    Cavallaro, T.
    Santoro, L.
    Vita, G.
    Quattrone, A.
    Padua, L.
    Gemignani, F.
    Visioli, F.
    Laura, M.
    Calabrese, D.
    Hughes, R. A. C.
    Radice, D.
    Solari, A.
    Pareyson, D.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (12) : 1354 - 1358
  • [5] POLG mutations presenting as Charcot-Marie-Tooth disease
    Phillips, Jade
    Courel, Steve
    Rebelo, Adriana P.
    Bis-Brewer, Dana M.
    Bardakjian, Tanya
    Dankwa, Lois
    Hamedani, Ali G.
    Zuchner, Stephan
    Scherer, Steven S.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2019, 24 (02) : 213 - 218
  • [6] Charcot-Marie-Tooth disease
    Szigeti, Kinga
    Lupski, James R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (06) : 703 - 710
  • [7] Charcot-Marie-Tooth disease
    Reilly, Mary M.
    Murphy, Sinead M.
    Laura, Matilde
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2011, 16 (01) : 1 - 14
  • [8] Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
    Sevilla, Teresa
    Lupo, Vincenzo
    Martinez-Rubio, Dolores
    Sancho, Paula
    Sivera, Rafael
    Chumillas, Maria J.
    Garcia-Romero, Mar
    Pascual-Pascual, Samuel I.
    Muelas, Nuria
    Dopazo, Joaquin
    Vilchez, Juan J.
    Palau, Francesc
    Espinos, Carmen
    BRAIN, 2016, 139 : 62 - 72
  • [9] Update on Charcot-Marie-Tooth Disease
    Ágnes Patzkó
    Michael E. Shy
    Current Neurology and Neuroscience Reports, 2011, 11 : 78 - 88
  • [10] Update on Charcot-Marie-Tooth Disease
    Patzko, Agnes
    Shy, Michael E.
    CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2011, 11 (01) : 78 - 88
12345