Phenotypic variation in a family with MPZ gene mutation

被引:0
|
作者
Mechler, F
Szabó, A
Siska, É
Züchner, S
Molnár, MJ
机构
[1] Univ Debrecen, Dept Neurol, Debrecen, Hungary
[2] Natl Inst Psychiat & Neurol, Budapest, Hungary
[3] Univ Klinikum, Rhein Westfal TH Aachen, Inst Neuropathol, Aachen, Germany
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:653 / 654
页数:2
相关论文
共 50 条
  • [41] A mutation (2314delG) in the usher syndrome type IIA gene: High prevalence and phenotypic variation
    Liu, XZ
    Hope, C
    Liang, CY
    Zou, JM
    Xu, LR
    Cole, T
    Mueller, RF
    Bundey, S
    Nance, W
    Steel, KP
    Brown, SDM
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (04) : 1221 - 1225
  • [42] Phenotypic Variation in the Group A Streptococcus Due to Natural Mutation of the Accessory Protein-Encoding Gene rocA
    Sarkar, Poulomee
    Danger, Jessica L.
    Jain, Ira
    Meadows, Laura A.
    Beam, Christopher
    Medicielo, Josette
    Burgess, Cameron
    Musser, James M.
    Sumby, Paul
    [J]. MSPHERE, 2018, 3 (05)
  • [43] CHARCOT-MARIE-TOOTH DISEASE: A CASE REPORT WITH A NEW TRUNCATING MUTATION IN MPZ GENE
    Piazza, S.
    Ricci, G.
    Baldinotti, F.
    Fogli, A.
    Molesti, E.
    Conidi, M. E.
    Michelacci, A.
    Migliore, L.
    Simi, P.
    Siciliano, G.
    [J]. JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2009, 14 : 23 - 23
  • [44] Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation
    D'Amato, E.
    Tammaro, P.
    Craig, T. J.
    Tosi, A.
    Giorgetti, R.
    Lorini, R.
    Ashcroft, F. M.
    [J]. DIABETIC MEDICINE, 2008, 25 (06) : 651 - 656
  • [45] Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report
    Kato, Masaru
    Hattori, Toshiyuki
    Shimizu, Tomohiro
    Ninagawa, Keita
    Izumihara, Rimi
    Nomoto, Hiroshi
    Tanimura, Kazuhide
    Atsumi, Tatsuya
    [J]. JOURNAL OF BONE AND MINERAL METABOLISM, 2020, 38 (06) : 903 - 907
  • [46] Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report
    Masaru Kato
    Toshiyuki Hattori
    Tomohiro Shimizu
    Keita Ninagawa
    Rimi Izumihara
    Hiroshi Nomoto
    Kazuhide Tanimura
    Tatsuya Atsumi
    [J]. Journal of Bone and Mineral Metabolism, 2020, 38 : 903 - 907
  • [47] Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145→Ser)
    Starr, A
    Michalewski, HJ
    Zeng, FG
    Fujikawa-Brooks, S
    Linthicum, F
    Kim, CS
    Winnier, D
    Keats, B
    [J]. BRAIN, 2003, 126 : 1604 - 1619
  • [48] Truncating mutation in the NHS gene:: Phenotypic heterogeneity of Nance-Horan syndrome in an Asian Indian family
    Ramprasad, VL
    Thool, A
    Murugan, S
    Nancarrow, D
    Vyas, P
    Rao, SK
    Vidhya, A
    Ravishankar, K
    Kumaramanickavel, G
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46 (01) : 17 - 23
  • [49] A novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversity
    Nakashima Y.
    Sakamoto Y.
    Nishimura G.
    Ikegawa S.
    Iwamoto Y.
    [J]. Human Genome Variation, 3 (1)
  • [50] Selective Bilateral Vestibular Neuropathy in a Turkish CMT1B Family With a Novel MPZ Mutation
    Akdal, Gulden
    Kocoglu, Koray
    Bora, Elcin
    Koc, Altug
    Ulgenal, Ayfer
    Bedir, Mithat
    Ala, Rahmi Tumay
    Battaloglu, Esra
    Kirkim, Gunay
    Sengun, Ihsan Sukru
    Halmagyi, Gabor Michael
    [J]. NEUROLOGY-CLINICAL PRACTICE, 2021, 11 (02) : E129 - E134