A novel mutation of gap junction protein ß 1 gene in X-linked Charcot-Marie-Tooth disease.
Muscle Nerve
; 43(6): 887-92, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21607969
ABSTRACT
INTRODUCTION:
In this study we report a novel mutation in the gap junction protein beta 1 (GJB1) gene of a Chinese X-linked Charcot-Marie-Tooth disease (CMTX1) family, which has specific electrophysiological characteristics.METHODS:
Twenty members in the family were studied by clinical neurological examination and GJB1 gene mutation analysis, and 3 patients were studied electrophysiologically. The proband and his mother also underwent sural nerve biopsy.RESULTS:
All patients have the CMT phenotype, except for 2 asymptomatic carriers. Electrophysiological examinations showed non-uniform slowing of motor conduction velocities and partial motor conduction blocks and temporal dispersion. Sural nerve biopsy confirmed a predominantly demyelinating neuropathy, and an Asn2Lys mutation in the amino-terminal domain was found in 9 members of this family, but not in 25 normal controls in the family.CONCLUSIONS:
This family represents a novel mutation in the GJB1 form of CMTX1. The mutation in the amino-terminus has an impact on the electrophysiological characteristics of the disease.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
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Conexinas
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Mutação de Sentido Incorreto
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Sinapses Elétricas
Limite:
Adolescent
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Adult
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Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
China