Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families

被引:14
|
作者
Pacheco-Cuellar, G. [1 ]
Gonzalez-Huerta, L. M. [1 ]
Valdes-Miranda, J. M. [1 ]
Pelaez-Gonzalez, H. [2 ]
Zenteno-Bacheron, S. [3 ]
Cazarin-Barrientos, J. [4 ]
Cuevas-Covarrubias, S. A. [1 ]
机构
[1] Univ Nacl Autonoma Mexico, Serv Genet, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
[2] Univ Nacl Autonoma Mexico, Serv Radiol & Imagen, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
[3] Univ Nacl Autonoma Mexico, Serv Neurol, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
[4] Univ Nacl Autonoma Mexico, Serv Dermatol, Fac Med, Hosp Gen Mexico, Mexico City 06726, DF, Mexico
关键词
STOP CODON; PATIENT; PROTEIN; TYPE-2;
D O I
10.1007/s00415-011-6025-x
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:1890 / 1892
页数:3
相关论文
共 50 条
  • [31] A rare case of hereditary sensory and autonomic neuropathy type II
    Mamytova, Elmira
    Jusupova, Asel
    Toktomametova, Anara
    Karbozova, Kunduz
    Kadyrova, Begimay
    Vityala, Yethindra
    Tagaev, Tugolbai
    CLINICAL CASE REPORTS, 2023, 11 (03):
  • [32] Novel Findings in Hereditary Sensory and Autonomic Neuropathy Type IV
    Varma-Doyle, Aditi
    Mcbride, Lori
    Marble, Michael
    Tilton, Ann
    NEUROLOGY, 2019, 92 (15)
  • [33] Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene
    Falcao de Campos, Catarina
    Vidailhet, Marie
    Toutain, Annick
    de Becdelievre, Alix
    Funalot, Benoit
    Bonello-Palot, Nathalie
    Stojkovic, Tanya
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2019, : 354 - 358
  • [34] A NOVEL MISSENSE MUTATION OF SPTLC1 IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY (HSAN) TYPE 1
    Boso, F.
    Taioli, F.
    Ferrarini, M.
    Marangi, A.
    Cavallaro, T.
    Fabrizi, G.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 : S6 - S7
  • [35] A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V
    Houlden, H
    King, RHM
    Hashemi-Nejad, A
    Wood, NW
    Mathias, CJ
    Reilly, M
    Thomas, PK
    ANNALS OF NEUROLOGY, 2001, 49 (04) : 521 - 525
  • [36] CMT2B: HEREDITARY SENSORY-MOTOR NEUROPATHY OR HEREDITARY SENSORY-AUTONOMIC NEUROPATHY?
    Pisciotta, C.
    Manganelli, F.
    Provitera, V
    Taioli, F.
    Iodice, R.
    Topa, A.
    Fabrizi, G. M.
    Nolano, M.
    Santoro, L.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2012, 17 : S45 - S45
  • [37] A case of hereditary sensory and autonomic neuropathy type II with plantar ulceration
    Ekmekci, TR
    Koslu, A
    Celik, M
    Forta, H
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2006, 20 (06) : 753 - 754
  • [38] Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
    Gerding, Wanda Maria
    Koetting, Judith
    Epplen, Joerg Thomas
    Neusch, Clemens
    NEUROMUSCULAR DISORDERS, 2009, 19 (10) : 701 - 703
  • [39] The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene
    Ohto, T
    Iwasaki, N
    Fujiwara, J
    Ohkoshi, N
    Kimura, S
    Kawade, K
    Tanaka, R
    Matsui, A
    NEUROPEDIATRICS, 2004, 35 (05) : 274 - 278
  • [40] Distal hereditary motor neuropathy with pyramidal features due to a novel mutation in GARS gene
    Sampaio, Pedro
    Estephan, Eduardo
    Sousa, Fernando
    Rocha, Maria Sheila
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2020, 25 (04) : 464 - 464