Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II
Journal of the Korean Neurological Association
;
: 251-254, 2007.
Artigo
em Coreano
| WPRIM
| ID: wpr-17571
ABSTRACT
A 38-year-old Korean man was diagnosed with hereditary sensory and autonomic neuropathy (HSAN) type 2 because of his chronic sensory neuropathy and progressive acro-mutilation. Genetic analysis revealed that he was a compound heterozygous for two novel mutations in the HSN2 gene including a nonsense mutation (Gln73X) and a 1-bp insertion mutation (Asp379fsX1). To our knowledge, this is the first report of a genetically confirmed case of HSAN type 2 in the Asian population and supports the genetic homogeneity of this rare disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Neuropatias Hereditárias Sensoriais e Autônomas
/
Mutagênese Insercional
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Códon sem Sentido
/
Doenças Raras
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Povo Asiático
Limite:
Adulto
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2007
Tipo de documento:
Artigo
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