Article
Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy.
Yonsei medical journal - 1 Jul 2015
Song Ju Sun, Kim Kyung-Ah, Min Ju-Hong, Ki Chang-Seok, Kim Jong-Won, Sung Duk Hyun, Kim Byoung Joon
Abstract excerpt
PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fas-ciculation. Although SBMA is not uncommon in Korea, there is only one study reporting clinical characteristics and genotype-phenotype correlation in Korean patients. MATERIALS AND METHODS: In this study, age at the onset of symptoms, the score of severity...
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