Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment

被引：29

作者：

Kawakami, H ^{[1
]}

Inoue, K ^{[1
]}

Sakakihara, I ^{[1
]}

Nakamura, S ^{[1
]}

机构：

[1] Hiroshima Univ, Sch Med, Dept Internal Med 3, Minami Ku, Hiroshima 7348551, Japan

来源：

NEUROLOGY | 2002年 / 59卷 / 06期

关键词：

D O I：

10.1212/WNL.59.6.923

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe a 16-year-old boy with severe muscular atrophy and signs of peripheral neuropathy compatible with Charcot-Marie-Tooth disease. Abnormalities in the cerebellum and central somatosensory pathway were also noted. Gene analysis revealed a novel gross insertion mutation in exon 2 of the connexin32 gene along with a 21-base pair duplication resulting in a seven-amino acid insertion in the first extracellular loop of the protein.

引用

页码：923 / 926

页数：4

共 13 条

[1] Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene
Bähr, M
Andres, F
Timmerman, V
Nelis, ME
Van Broeckhoven, C
Dichgans, J
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 66 (02) : 202 - 206
[2] CONNEXIN MUTATIONS IN X-LINKED CHARCOT-MARIE-TOOTH DISEASE
BERGOFFEN, J
SCHERER, SS
WANG, S
SCOTT, MO
BONE, LJ
PAUL, DL
CHEN, K
LENSCH, MW
CHANCE, PF
FISCHBECK, KH
[J]. SCIENCE, 1993, 262 (5142) : 2039 - 2042
[3] Dyck PJ, 1994, PERIPHERAL NEUROPATH, P1094
[4] Ikegami T, 1998, AM J MED GENET, V80, P352, DOI 10.1002/(SICI)1096-8628(19981204)80:4<352::AID-AJMG9>3.3.CO
[5] 2-I
[6] Ionasescu V, 1996, AM J MED GENET, V63, P486, DOI 10.1002/(SICI)1096-8628(19960614)63:3<486::AID-AJMG14>3.0.CO
[7] 2-I
[8] POINT MUTATIONS OF THE CONNEXIN32 (GJB1) GENE IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY
IONASESCU, V
SEARBY, C
IONASESCU, R
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (02) : 355 - 358
[9] The gap junction communication channel
Kumar, NM
Gilula, NB
[J]. CELL, 1996, 84 (03) : 381 - 388
[10] Nelis E, 1999, HUM MUTAT, V13, P11, DOI 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.3.CO

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