Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease

被引:18
作者
Pareyson, D
Menichella, D
Botti, S
Sghirlanzoni, A
Fallica, E
Mora, M
Ciano, C
Shy, ME
Taroni, F
机构
[1] Ist Nazl Neurol Carlo Besta, Dept Neurol, I-20133 Milan, Italy
[2] Wayne State Univ, Sch Med, Dept Neurol, Detroit, MI 48102 USA
来源
CHARCOT-MARIE-TOOTH DISORDERS | 1999年 / 883卷
关键词
D O I
10.1111/j.1749-6632.1999.tb08615.x
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
[No abstract available]
引用
收藏
页码:477 / 480
页数:4
相关论文
共 9 条
[1]  
CHAPON F, 1997, NEUROMUSCULAR DISORD, V7, P472
[2]  
DEJONGHE P, 1998, J NEUROL, V245, P352
[3]   Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene [J].
Marrosu, MG ;
Vaccargiu, S ;
Marrosu, G ;
Vannelli, A ;
Cianchetti, C ;
Muntoni, F .
NEUROLOGY, 1998, 50 (05) :1397-1401
[4]   PROTEIN ZERO (P0)-DEFICIENT MICE SHOW MYELIN DEGENERATION IN PERIPHERAL-NERVES CHARACTERISTIC OF INHERITED HUMAN NEUROPATHIES [J].
MARTINI, R ;
ZIELASEK, J ;
TOYKA, KV ;
GIESE, KP ;
SCHACHNER, M .
NATURE GENETICS, 1995, 11 (03) :281-286
[5]  
Pareyson D, 1999, NEUROLOGY, V52, P1110
[6]   HMSN-III PHENOTYPE DUE TO HOMOZYGOUS EXPRESSION OF A DOMINANT HMSN-II GENE [J].
SGHIRLANZONI, A ;
PAREYSON, D ;
BALESTRINI, MR ;
BELLONE, E ;
BERTA, E ;
CIANO, C ;
MANDICH, P ;
MARAZZI, R .
NEUROLOGY, 1992, 42 (11) :2201-2203
[7]  
Shy ME, 1997, J NEUROPATH EXP NEUR, V56, P811
[8]  
Taroni F., 1996, American Journal of Human Genetics, V59, pA288
[9]   Clinical phenotypes of different MPZ (P-0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination [J].
Warner, LE ;
Hilz, MJ ;
Appel, SH ;
Killian, JM ;
Kolodny, EH ;
Karpati, G ;
Carpenter, S ;
Watters, GV ;
Wheeler, C ;
Witt, D ;
Bodell, A ;
Nelis, E ;
Van Broeckhoven, C ;
Lupski, JR .
NEURON, 1996, 17 (03) :451-460