Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease

被引：11
|
作者：
Koutsis, Georgios [1 ,2 ]
Pandraud, Amelie [2 ]
Polke, James M. [3 ]
Wood, Nicholas W. [2 ,3 ]
Panas, Marios [1 ]
Karadima, Georgia [1 ]
Houlden, Henry [2 ,3 ]
机构：
[1] Univ Athens, Sch Med, Eginitio Hosp, Dept Neurol, Athens 11528, Greece
[2] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
[3] Natl Hosp Neurol & Neurosurg, Neurogenet Lab, Dept Mol Neurosci, London WC1N 3BG, England
来源：
BRAIN | 2012年 / 135卷
基金：
英国惠康基金; 英国医学研究理事会;
关键词：
MUTATIONS; NEUROPATHY; GENES; DELETION; MPZ; CX32; GJB1;
D O I：
10.1093/brain/aws034
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页数：6
相关论文
共 50 条
  • [31] Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease
    Marian AJ Weterman
    Fred van Ruissen
    Marit de Wissel
    Lou Bordewijk
    Johnny PA Samijn
    W Ludo van der Pol
    Farid Meggouh
    Frank Baas
    European Journal of Human Genetics, 2010, 18 : 421 - 428
  • [32] Ultrasonographic manifestations of Charcot-Marie-Tooth disease due to a mutation in the PMP22 gene: A case image
    Zhang, Baisong
    Lyu, Shuyi
    JOURNAL OF CLINICAL ULTRASOUND, 2025, 53 (01) : 179 - 181
  • [33] Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients
    Karadima, G.
    Floroskufi, P.
    Koutsis, G.
    Vassilopoulos, D.
    Panas, M.
    CLINICAL GENETICS, 2011, 80 (05) : 497 - 499
  • [34] Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients
    Koutsis, G.
    Pandraud, A.
    Karadima, G.
    Panas, M.
    Floroskoufi, P.
    Wood, N. W.
    Houlden, H.
    EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 : 729 - 729
  • [35] Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek Charcot-Marie-Tooth type 1 patients
    Koutsis, G.
    Pandraud, A.
    Karadima, G.
    Panas, M.
    Reilly, M. M.
    Floroskufi, P.
    Wood, N. W.
    Houlden, H.
    CLINICAL GENETICS, 2013, 83 (04) : 388 - 391
  • [36] A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type IA with sensorineural deafness
    Joo, IS
    Ki, CS
    Joo, SY
    Huh, K
    Kim, JW
    NEUROMUSCULAR DISORDERS, 2004, 14 (05) : 325 - 328
  • [37] Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
    Resko, Peter
    Radvansky, Jan
    Odnogova, Zuzana
    Baldovic, Marian
    Minarik, Gabriel
    Polakova, Helena
    Palffy, Roland
    Kadasi, Ludevit
    GENERAL PHYSIOLOGY AND BIOPHYSICS, 2011, 30 (04) : 379 - 388
  • [38] Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
    Jung, Na Young
    Kwon, Hye Mi
    Nam, Da Eun
    Tamanna, Nasrin
    Lee, Ah Jin
    Kim, Sang Beom
    Choi, Byung-Ok
    Chung, Ki Wha
    GENES, 2022, 13 (07)
  • [39] Intermediate form of Charcot-Marie-Tooth with a new single nucleotide deletion of PMP22 gene
    Luigetti, M.
    Sabatelli, M.
    Zollino, M.
    Conte, A.
    Madia, F.
    Mereu, M. L.
    Marangi, G.
    Pomponi, M. G.
    Tonali, P. A.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2007, 12 (02) : 161 - 162
  • [40] Charcot-Marie-Tooth disease: Histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)
    Sander, S
    Nicholson, GA
    Ouvrier, RA
    McLeod, JG
    Pollard, JD
    MUSCLE & NERVE, 1998, 21 (02) : 217 - 225
12345