Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3

被引:18
作者
Nelis, E
Berciano, J
Verpoorten, N
Coen, K
Dierick, I
Van Gerwen, V
Combarros, O
De Jonghe, P
Timmerman, V
机构
[1] Univ Instelling Antwerp VIB, Dept Mol Genet, Peripheral Neuropathy Grp, B-2610 Antwerp, Belgium
[2] Univ Cantabria, Marques Valdecilla Univ Hosp, Div Neurol, E-39005 Santander, Spain
[3] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium
来源
JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 03期
关键词
D O I
10.1136/jmg.2003.012633
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:193 / 197
页数:5
相关论文
共 32 条
[1]   Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V [J].
Antonellis, A ;
Ellsworth, RE ;
Sambuughin, N ;
Puls, I ;
Abel, A ;
Lee-Lin, SQ ;
Jordanova, A ;
Kremensky, I ;
Christodoulou, K ;
Middleton, LT ;
Sivakumar, K ;
Ionasescu, V ;
Funalot, B ;
Vance, JM ;
Goldfarb, LG ;
Fischbeck, KH ;
Green, ED .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1293-1299
[2]   HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-II - CLINICOPATHOLOGICAL STUDY OF A FAMILY [J].
BERCIANO, J ;
COMBARROS, O ;
FIGOLS, J ;
CALLEJA, J ;
CABELLO, A ;
SILOS, I ;
CORIA, F .
BRAIN, 1986, 109 :897-914
[3]   CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE [J].
BERGOFFEN, J ;
SCHERER, SS ;
WANG, S ;
SCOTT, MO ;
BONE, LJ ;
PAUL, DL ;
CHEN, K ;
LENSCH, MW ;
CHANCE, PF ;
FISCHBECK, KH .
SCIENCE, 1993, 262 (5142) :2039-2042
[4]  
COTTINGHAM RW, 1993, AM J HUM GENET, V53, P252
[5]   The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype [J].
De Jonghe, P ;
Timmerman, V ;
Ceuterick, C ;
Nelis, E ;
De Vriendt, E ;
Löfgren, A ;
Vercruyssen, A ;
Verellen, C ;
Van Maldergem, L ;
Martin, JJ ;
Van Broeckhoven, C .
BRAIN, 1999, 122 :281-290
[6]   Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q [J].
Desautels, A ;
Turecki, G ;
Montplaisir, J ;
Sequeira, A ;
Verner, A ;
Rouleau, GA .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1266-1270
[7]   LOWER MOTOR AND PRIMARY SENSORY NEURON DISEASES WITH PERONEAL MUSCULAR ATROPHY .2. NEUROLOGIC GENETIC AND ELECTROPHYSIOLOGIC FINDINGS IN VARIOUS NEURONAL DEGENERATIONS [J].
DYCK, PJ ;
LAMBERT, EH .
ARCHIVES OF NEUROLOGY, 1968, 18 (06) :619-&
[8]  
Dyck PJ, 1994, PERIPHERAL NEUROPATH, P1094
[9]   GENETIC-ASPECTS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY (TYPE-I AND TYPE-2) [J].
HARDING, AE ;
THOMAS, PK .
JOURNAL OF MEDICAL GENETICS, 1980, 17 (05) :329-336
[10]   CHARCOT-MARIE-TOOTH NEUROPATHY TYPE-1B IS ASSOCIATED WITH MUTATIONS OF THE MYELIN-P(0) GENE [J].
HAYASAKA, K ;
HIMORO, M ;
SATO, W ;
TAKADA, G ;
UYEMURA, K ;
SHIMIZU, N ;
BIRD, TD ;
CONNEALLY, PM ;
CHANCE, PF .
NATURE GENETICS, 1993, 5 (01) :31-34