CHARCOT-MARIE-TOOTH DISEASE: A CASE REPORT WITH A NEW TRUNCATING MUTATION IN MPZ GENE

被引：0
|
作者：
Piazza, S. [1 ]
Ricci, G. [1 ]
Baldinotti, F. [2 ]
Fogli, A. [2 ]
Molesti, E. [1 ]
Conidi, M. E. [2 ]
Michelacci, A. [2 ]
Migliore, L. [3 ]
Simi, P. [2 ]
Siciliano, G. [1 ]
机构：
[1] Dept Neurosci, Pisa, Italy
[2] Maternal & Childhood Dept, Pisa, Italy
[3] Dept Human & Environm Sci, Pisa, Italy
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2009年 / 14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：
引用
收藏
页码：23 / 23
页数：1
相关论文
共 50 条
  • [1] A family with subclinical Charcot-Marie-Tooth Disease associated with a mutation in the MPZ gene
    Madureira, B.
    Moreira, I.
    Correia, H.
    Cruz, S.
    [J]. EUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 273 - 273
  • [2] A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation
    Datta, Sorabh
    Kataria, Saurabh
    Govindarajan, Raghav
    [J]. CUREUS JOURNAL OF MEDICAL SCIENCE, 2019, 11 (07)
  • [3] CHARCOT-MARIE-TOOTH DISEASE WITH INTERMEDIATE CONDUCTION VELOCITIES CAUSED BY A NOVEL MUTATION IN THE MPZ GENE
    Banchs, Isabel
    Casasnovas, Carlos
    Montero, Jordi
    Volpini, Victor
    Antonio Martinez-Matos, Juan
    [J]. MUSCLE & NERVE, 2010, 42 (02) : 184 - 188
  • [4] CHARCOT-MARIE-TOOTH DISEASE: A CASE REPORT
    Pirici, D.
    Bumbea, A. M. I.
    Rogoveanu, O. C.
    [J]. OSTEOPOROSIS INTERNATIONAL, 2018, 29 : S317 - S318
  • [5] MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease
    Hao, Xiaoyan
    Li, Chong
    Lv, Yunguo
    Zhou, Tongtong
    Tian, Hao
    Ma, Yaru
    Ding, Jiangwei
    Li, Xinxiao
    Wang, Yangyang
    Wang, Lei
    Yang, Ping
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (04):
  • [6] New mutation in a patient with Charcot-Marie-Tooth disease
    Dominguez Diez, F. J.
    Lopez Alburquerque, J. T.
    [J]. NEUROLOGIA, 2019, 34 (08): : 546 - 547
  • [7] CHARCOT-MARIE-TOOTH DISEASE AND PREGNANCY - REPORT OF A CASE
    BELLINA, JH
    DEMING, B
    [J]. JOURNAL OF THE LOUISIANA STATE MEDICAL SOCIETY, 1973, 125 (11): : 393 - 395
  • [8] THE GENE MUTATION OF CHINESE PROBANDS WITH CHARCOT-MARIE-TOOTH DISEASE
    Liu, X.
    Fan, D.
    [J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 333 - 333
  • [9] CHARCOT-MARIE-TOOTH DISEASE - CASE-REPORT
    LOUIS, JM
    GIRAUDI, CF
    [J]. JOURNAL OF THE AMERICAN PODIATRY ASSOCIATION, 1980, 70 (01): : 43 - 46
  • [10] Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot-Marie-Tooth disease in a Russian family: a case report
    Kozina, Anastasiya Aleksandrovna
    Baryshnikova, Natalia Vladimirovna
    Ilinskaya, Anna Yurievna
    Kim, Anna Alexandrovna
    Plotnikov, Nikolay Alekseevich
    Pogodina, Nadezhda Andreevna
    Surkova, Ekaterina Ivanovna
    Shatalov, Peter Alekseevich
    Ilinsky, Valery Vladimirovich
    [J]. JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2022, 50 (12)
12345