Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation

被引：13
|
作者：
Frasquet, M. [1 ,2 ,3 ]
Chumillas, M. J. [1 ,3 ,4 ]
Vilchez, J. J. [1 ,2 ,3 ,5 ]
Marquez-Infante, C. [6 ]
Palau, F. [3 ,7 ,8 ,9 ,10 ]
Vazquez-Costa, J. F. [1 ,2 ,3 ]
Lupo, V. [3 ,7 ]
Espinos, C. [3 ,7 ]
Sevilla, T. [1 ,2 ,3 ,5 ]
机构：
[1] Inst Invest Sanitaria La Fe IIS La Fe, Neuromuscular Res Unit, Valencia, Spain
[2] Hosp Univ & Politecn La Fe, Dept Neurol, Ave Fernando Abril Martorell 106, Valencia 46026, Spain
[3] Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
[4] Hosp Univ & Politecn La Fe, Dept Clin Neurophysiol, Valencia, Spain
[5] Univ Valencia, Dept Med, Valencia, Spain
[6] Hosp Univ Virgen del Rocio, Dept Neurol, Seville, Spain
[7] CIPF, Program Rare & Genet Dis & IBV CSIC Associated Un, Valencia, Spain
[8] Hosp St Joan de Deu, Dept Genet & Mol Med, IPER, Barcelona, Spain
[9] Hosp St Joan de Deu, Inst Recerca Pediat, Barcelona, Spain
[10] Univ Barcelona, Dept Pediat, Barcelona, Spain
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2016年 / 87卷 / 11期
关键词：
CLINICAL SPECTRUM;
D O I：
10.1136/jnnp-2015-312890
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：1265 / U147
页数：4
相关论文
共 50 条
  • [21] Identification of a Weak Functional FUT1 Allele with 235G > C Mutation Associated with Para-Bombay Phenotype
    Zhu, F.
    Zhu, F.
    Xu, X.
    Xu, X.
    Hong, X.
    Hong, X.
    He, Y.
    He, Y.
    Yan, L.
    Yan, L.
    TRANSFUSION, 2009, 49 : 112A - 112A
  • [22] The novel missense mutation AQP1*c.517G>C leads to the Coltonnull phenotype in a patient with an alloanti-Co3
    Bugert, P.
    Weichmann, J.
    Rink, G.
    Rothenberger, S.
    Stuertzel, A.
    Richter, E.
    Scharberg, E. A.
    TRANSFUSION MEDICINE AND HEMOTHERAPY, 2017, 44 : 53 - 53
  • [23] The G93C mutation in superoxide dismutase 1 -: Clinicopathologic phenotype and prognosis
    Régal, L
    Vanopdenbosch, T
    Tilkin, P
    Van Den Bosch, L
    Thijs, V
    Sciot, R
    Robberecht, W
    ARCHIVES OF NEUROLOGY, 2006, 63 (02) : 262 - 267
  • [24] Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G> A mutation
    Xin, Xiangke
    Wang, Na
    Zhang, Yicheng
    AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 2023, 366 (05): : 387 - 394
  • [25] Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers
    Barandiaran, Myriam
    Estanga, Ainara
    Moreno, Fermin
    Indakoetxea, Begona
    Alzualde, Ainhoa
    Balluerka, Nekane
    Marti Masso, Jose Felix
    Lopez de Munain, Adolfo
    JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY, 2012, 18 (06) : 1086 - 1090
  • [26] Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
    Machaczka, Maciej
    Klimkowska, Monika
    ANNALS OF HEMATOLOGY, 2014, 93 (10) : 1787 - 1789
  • [27] Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G>C Mutation of the Feline GLB1 Gene: Case Study
    Uddin, Mohammad Mejbah
    Hossain, Mohammad Alamgir
    Rahman, Mohammad Mahbubur
    Chowdhury, Morshedul Alam
    Tanimoto, Takeshi
    Yabuki, Akira
    Mizukami, Keijiro
    Chang, Hye-Sook
    Yamato, Osamu
    JOURNAL OF VETERINARY MEDICAL SCIENCE, 2013, 75 (03): : 395 - 397
  • [28] The tRNAMet 4435A>G mutation in the mitochondrial haplogroup G2a1 is responsible for maternally inherited hypertension in a Chinese pedigree
    Lu, Zhongqiu
    Chen, Hong
    Meng, Yanzi
    Wang, Yan
    Xue, Ling
    Zhi, Shaoce
    Qiu, Qiaomeng
    Yang, Li
    Mo, Jun Qin
    Guan, Min-Xin
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (11) : 1181 - 1186
  • [29] Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene
    Palmio, Johanna
    Sandell, Satu
    Hanna, Michael G.
    Mannikko, Roope
    Penttila, Sini
    Udd, Bjarne
    NEUROLOGY, 2017, 88 (16) : 1520 - 1527
  • [30] Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
    Al Mandhari, Hilal
    Al-Musalhi, Buthaina
    Al Mahroqi, Nouh
    Hilmarsen, Hilde T.
    Braathen, Geir J.
    Khnykin, Denis
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2021, 60 (03) : 368 - 371
12345