A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

In Soo Joo; Chang Seok Ki; Sung Yeol Joo; Kyoon Huh; Jong Won Kim

doi:10.1016/j.nmd.2004.02.009

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

In Soo Joo
, Chang Seok Ki
, Sung Yeol Joo
, Kyoon Huh
, Jong Won Kim

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

21 Scopus citations

Abstract

Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.

Original language	English
Pages (from-to)	325-328
Number of pages	4
Journal	Neuromuscular Disorders
Volume	14
Issue number	5
DOIs	https://doi.org/10.1016/j.nmd.2004.02.009
State	Published - May 2004
Externally published	Yes

Keywords

A novel missense mutation
Charcot-Marie-Tooth disease with deafness
PMP22 gene

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10.1016/j.nmd.2004.02.009

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title = "A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness",

abstract = "Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.",

keywords = "A novel missense mutation, Charcot-Marie-Tooth disease with deafness, PMP22 gene",

author = "Joo, \{In Soo\} and Ki, \{Chang Seok\} and Joo, \{Sung Yeol\} and Kyoon Huh and Kim, \{Jong Won\}",

year = "2004",

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doi = "10.1016/j.nmd.2004.02.009",

language = "English",

volume = "14",

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journal = "Neuromuscular Disorders",

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T1 - A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

AU - Joo, In Soo

AU - Ki, Chang Seok

AU - Joo, Sung Yeol

AU - Huh, Kyoon

AU - Kim, Jong Won

PY - 2004/5

Y1 - 2004/5

N2 - Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.

AB - Charcot-Marie-Tooth disease with deafness is a clinically distinct entity and is associated with mutations or deletions in several genes including PMP22 gene. Here, we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) co-segregating with the disease phenotype and leading to a T23R missense mutation in PMP22.

KW - A novel missense mutation

KW - Charcot-Marie-Tooth disease with deafness

KW - PMP22 gene

UR - https://www.scopus.com/pages/publications/1942521756

U2 - 10.1016/j.nmd.2004.02.009

DO - 10.1016/j.nmd.2004.02.009

M3 - Article

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AN - SCOPUS:1942521756

SN - 0960-8966

VL - 14

SP - 325

EP - 328

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 5

ER -

A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness

Abstract

Keywords

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