Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

Changqing Lin; Chikahiko Numakura; Tohru Ikegami; Masami Shizuka; Mikio Shoji; Garth Nicholson; Kiyoshi Hayasaka

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

Changqing Lin, Chikahiko Numakura, Tohru Ikegami, Masami Shizuka, Mikio Shoji, Garth Nicholson, Kiyoshi Hayasaka^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

Abstract

Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.

Original language	English
Pages (from-to)	239-244
Number of pages	6
Journal	Tohoku Journal of Experimental Medicine
Volume	188
Issue number	3
Publication status	Published - Jul 1999
Externally published	Yes

Cite this

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title = "Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease",

abstract = "Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.",

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T1 - Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

AU - Lin, Changqing

AU - Numakura, Chikahiko

AU - Ikegami, Tohru

AU - Shizuka, Masami

AU - Shoji, Mikio

AU - Nicholson, Garth

AU - Hayasaka, Kiyoshi

PY - 1999/7

Y1 - 1999/7

N2 - Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.

AB - Two patients with a mild to moderate phenotype of Charcot-Marie-Tooth disease were identified to carry the mutations of the connexin (Cx) 32 gene. One of the patient had a novel nonsense mutation of tryptophan at amino acid 132 and the other had a deletion of the Cx 32 gene. Our study indicated that a loss of Cx 32 function contributes to a major pathogenesis of X-linked Charcot-Marie-Tooth disease.

UR - https://www.scopus.com/pages/publications/0033155367

M3 - Article

C2 - 10587015

AN - SCOPUS:0033155367

SN - 0040-8727

VL - 188

SP - 239

EP - 244

JO - Tohoku Journal of Experimental Medicine

JF - Tohoku Journal of Experimental Medicine

IS - 3

ER -

Deletion and nonsense mutations of the connexin 32 gene associated with Charcot-Marie-Tooth disease

Abstract

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