Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A

被引:13
作者
Chapon, F
Diraison, P
Lechevalier, B
Chazot, G
Viader, F
Bonnebouche, C
Vandenberghe, A
Timmerman, V
Van Broeckhoven, C
Vandenberghe, A
机构
[1] HOP NEUROL, SERV NEUROL, F-69394 LYON, FRANCE
[2] CHRU CAEN, SERV NEUROL VASTEL, F-14033 CAEN, FRANCE
[3] HOP ANTIQUAILLE, NEUROGENET LAB, F-69321 LYON 05, FRANCE
[4] UNIV INSTELLING ANTWERP, BORN BUNGE FDN, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM
[5] UNIV LYON 1, FAC PHARM, F-69373 LYON 08, FRANCE
关键词
D O I
10.1136/jnnp.61.5.535
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:535 / 536
页数:2
相关论文
共 5 条
[1]   2 AUTOSOMAL-DOMINANT NEUROPATHIES RESULT FROM RECIPROCAL DNA DUPLICATION/DELETION OF A REGION ON CHROMOSOME-17 [J].
CHANCE, PF ;
ABBAS, N ;
LENSCH, MW ;
PENTAO, L ;
ROA, BB ;
PATEL, PI ;
LUPSKI, JR .
HUMAN MOLECULAR GENETICS, 1994, 3 (02) :223-228
[2]   EVIDENCE FOR GENETIC-HETEROGENEITY UNDERLYING HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES [J].
MARIMAN, ECM ;
GABREELSFESTEN, AAWM ;
VANBEERSUM, SEC ;
JONGEN, PJH ;
VANDELOOIJ, E ;
BAAS, F ;
BOLHUIS, PA ;
ROPERS, HH ;
GABREELS, FJM .
HUMAN GENETICS, 1994, 93 (02) :151-156
[3]   A FRAME-SHIFT MUTATION IN THE PMP22 GENE IN HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES [J].
NICHOLSON, GA ;
VALENTIJN, LJ ;
CHERRYSON, AK ;
KENNERSON, ML ;
BRAGG, TL ;
DEKROON, RM ;
ROSS, DA ;
POLLARD, JD ;
MCLEOD, JG ;
BOLHUIS, PA ;
BAAS, F .
NATURE GENETICS, 1994, 6 (03) :263-266
[4]  
THOMAS FP, 1994, ACTA NEUROPATHOL, V87, P91
[5]   Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP) [J].
Timmerman, V ;
Lofgren, A ;
LeGuern, E ;
Liang, P ;
De Jonghe, P ;
Martin, JJ ;
Verhalle, D ;
Robberecht, W ;
Gouider, R ;
Brice, A ;
Van Broeckhoven, C .
HUMAN GENETICS, 1996, 97 (01) :26-34