DUPLICATIONS AND DELETIONS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - A REFINED MUTATION MODEL

被引：0
|
作者：
VANDENBERGHE, A [1 ]
DUTHEL, S [1 ]
BOST, M [1 ]
BONNEBOUCHE, C [1 ]
BOUCHERAT, M [1 ]
CHAZOT, G [1 ]
LATOUR, P [1 ]
机构：
[1] HOP ANTIQUAILLE,LYON,FRANCE
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1995年 / 57卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1335 / 1335
页数：1
相关论文
共 50 条
  • [41] Gene dosage effects in hereditary peripheral neuropathy - Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies
    Gabriel, JM
    Erne, B
    Pareyson, D
    Sghirlanzoni, A
    Taroni, F
    Steck, AJ
    NEUROLOGY, 1997, 49 (06) : 1635 - 1640
  • [42] NEPHROPATHY ASSOCIATED WITH CHARCOT-MARIE-TOOTH (CMT) DISEASE
    GUILLOT, M
    GUBLER, MC
    AICARDI, J
    BROYER, M
    LANDTHALER, G
    PARAIN, D
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1985, 6 (03): : 232 - 232
  • [43] Optic Neuropathy in Charcot-Marie-Tooth Disease
    Hamedani, Ali G.
    Wilson, James A.
    Avery, Robert A.
    Scherer, Steven S.
    JOURNAL OF NEURO-OPHTHALMOLOGY, 2021, 41 (02) : 233 - 238
  • [44] HEREDITARY NEPHRITIS AND CHARCOT-MARIE-TOOTH DISEASE
    不详
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 1967, 97 (20) : 1231 - +
  • [45] ERIBULIN INDUCED NEUROPATHY IN A PATIENT WITH PREVIOUSLY UNDIAGNOSED CHARCOT-MARIE-TOOTH (CMT) DISEASE
    Arrillaga-Romany, Isabel
    Ruddy, Kathryn
    Greenberg, Steven
    Nayak, Lakshmi
    NEURO-ONCOLOGY, 2013, 15 : 99 - 100
  • [46] Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation
    Synofzik, Matthis
    Schicks, Julia
    Wilhelm, Christian
    Bornemann, Antje
    Schoels, Ludger
    EUROPEAN JOURNAL OF NEUROLOGY, 2012, 19 (10) : e114 - e116
  • [47] AUTONOMIC FUNCTION IN HEREDITARY MOTOR AND SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE)
    INGALL, TJ
    MCLEOD, JG
    MUSCLE & NERVE, 1991, 14 (11) : 1080 - 1083
  • [48] KINSHIP WITH AUTOSOMAL HEREDITARY MOTOR AND SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE)
    VANWEERDEN, TW
    HOUTHOFF, HJ
    SEELEN, W
    MINDERHOUD, JM
    CLINICAL NEUROLOGY AND NEUROSURGERY, 1976, 79 (04) : 329 - 329
  • [49] AUDITORY FUNCTION IN HEREDITARY MOTOR AND SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE)
    RAGLAN, E
    PRASHER, DK
    TRINDER, E
    RUDGE, P
    ACTA OTO-LARYNGOLOGICA, 1987, 103 (1-2) : 50 - 55
  • [50] Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
    Bort, S
    Nelis, E
    Timmerman, V
    Sevilla, T
    CruzMartinez, A
    Martinez, F
    Millan, JM
    Arpa, J
    Vilchez, JJ
    Prieto, F
    Van Broeckhoven, C
    Palau, F
    HUMAN GENETICS, 1997, 99 (06) : 746 - 754
12345