- Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
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Song JS, Kim KA, Min JH, Ki CS, Kim JW, Sung DH, Kim BJ
- KMID: 2366340
- Yonsei Med J.
- 2015 Jul;56(4):993-997.
- doi: 10.3349/ymj.2015.56.4.993
PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there... -
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- Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics
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Kim JM, Shin SS, Kim JY, Joo SI, Park SS, Kim JW, Jeon BS
- KMID: 646043
- J Korean Med Sci.
- 1999 Dec;14(6):659-664.
- doi: 10.3346/jkms.1999.14.6.659
Studies on spinocerebellar ataxias (SCA) have been hampered by a lack of disease markers. Clinical and pathological heterogeneity also made the classification unreliable. Linkage studies established that there are multiple... -
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