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KMID : 0359720070250020251
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Journal of the Korean Neurological Association
2007 Volume.25 No. 2 p.251 ~ p.254
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Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II
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Bae Jong-Seok
Cho Hyn-Jung
An Jae-Young
Kim Byoung-Joon
Ki Chang-Seok
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Abstract
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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.
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KEYWORD
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Hereditary Sensory and Autonomic Neuropathies, HSN2, Mutation
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