HSPB1 c523C> T Mutation: Clinical and Electrophysiological Study of a Large CMT2F Family

被引：0
|
作者：
Folgoas, Emmanuelle [1 ]
Magot, Armelle [1 ]
Latour, Philippe [2 ]
Le Noan, Hubert [3 ]
Mercier, Sandra [1 ]
Pereon, Yann [1 ]
机构：
[1] CHU Nantes, Ctr Reference Neuromusculaire Nantes Angers, F-44035 Nantes 01, France
[2] CHU Lyon, Serv Neurobiol, Bron, France
[3] Nouvelles Clin Nantaises, Nantes, France
来源：
NEUROLOGY | 2013年 / 80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：
P05070
引用
收藏
页数：1
相关论文
共 50 条
  • [31] c.49T>C mutation on the -(1,2)-fucosyltransferase gene responsible for an individual with para-Bombay phenotype
    Hong, Xiaozhen
    Chen, Shu
    Ma, Kairong
    He, Ji
    Zhu, Faming
    TRANSFUSION, 2018, 58 (04) : 1076 - 1077
  • [32] Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp)
    Lin, Hsin-Pin
    Ho, Kwo Wei David
    Jerath, Nivedita U.
    JOURNAL OF NEUROMUSCULAR DISEASES, 2019, 6 (02) : 259 - 261
  • [33] More severe clinical form of unverricht Lundborg disease (EPM1) in compound heterozygotes for the dodecamer repeat expansion mutation and for the C.202C>T mutation
    Kaelviaeinen, Reetta
    Koskenkorva, P.
    Aeikiae, M.
    Mervaala, E.
    Vanninen, R.
    Hakumaeki, J.
    Koenoenen, M.
    Eriksson, K.
    Lehesjoki, A. E.
    EPILEPSIA, 2007, 48 : 389 - 389
  • [34] Autosomal dominant neovascular inflammatory vitreoretinopathy with CAPN5 c.731T > C gene mutation; clinical management of a family cohort and review of the literature
    Tabbaa, Tarek
    Mehra, Ankur A.
    Kesav, Natasha P.
    Mahajan, Vinit B.
    Swanson, Roy D.
    Zubricky, Ryan
    Sobol, Warren M.
    OPHTHALMIC GENETICS, 2023, 44 (06) : 559 - 567
  • [35] First Report of Association Between Rare -Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C)
    Ghadami, Elham
    Tamaddoni, Ahmad
    Sedaghat, Sadegh
    Tabaripour, Reza
    Baboli, Hadis Pourreza
    Akhavan-Niaki, Haleh
    INDIAN JOURNAL OF CLINICAL BIOCHEMISTRY, 2019, 34 (01) : 115 - 117
  • [36] Metastatic Pancreatic Adenocarcinoma in a Patient With Chronic Calcific Pancreatitis and a Heterozygous SPINK1 c.194+2T>C Mutation
    Boortalary, Tina
    Jalaly, Niloofar Y.
    Moran, Robert A.
    Makary, Martin A.
    Walsh, Christi
    Lennon, Anne Marie
    Zaheer, Atif
    Singh, Vikesh K.
    PANCREAS, 2018, 47 (04) : E24 - E25
  • [37] Heterozygous Spink1 c.194+2T>C mutation promotes chronic pancreatitis after acute attack in mice
    Liu, Muyun
    Ma, Lizhe
    An, Wei
    Yang, Yaying
    Liu, Juncen
    Jiang, Hui
    Yuan, Jihang
    Sun, Xiaoru
    Zhu, Jingyi
    Yan, Maoyun
    Wang, Luowei
    Li, Zhaoshen
    Liao, Zhuan
    Sun, Chang
    PANCREATOLOGY, 2024, 24 (05) : 677 - 689
  • [38] Novel Mutation of the Translation Initiation Codon of the 1-Globin Gene (ATG>AAG or HBA1:c.2T>A)
    Waye, John S.
    Eng, Barry
    Hanna, Meredith
    Hohenadel, Betty-Ann
    Nakamura, Lisa
    Walker, Lynda
    HEMOGLOBIN, 2016, 40 (05) : 369 - 370
  • [39] The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient
    Beresewicz, Malgorzata
    Boratynska-Jasinska, Anna
    Charzewski, Lukasz
    Kawalec, Maria
    Kabzinska, Dagmara
    Kochanski, Andrzej
    Krzysko, Krystiana A.
    Zablocka, Barbara
    PLOS ONE, 2017, 12 (01):
  • [40] Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism?: A study in the Spanish population
    de Lucas, AP
    Fulgencio, MG
    Robles, JM
    Sierra, EM
    Cerros, MJD
    Perez, PM
    GENETICS IN MEDICINE, 2005, 7 (03) : 212 - 213
12345