Jae Won Hyun

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A 28-year-old woman presented with vertigo and ataxia for 3 months. The patient showed spontaneous upbeat nystagmus with decreasing slow phase velocities. Without fixation, the slow phases of the nystagmus became more linear, and disjunctive torsional components were associated (Fig. 1a, b; Video 1). The upbeat nystagmus decreased during lateral and upward(More)
Chromosome 22q11.2 deletion syndrome is the most common interstitial deletion syndrome. Major clinical manifestation includes hypocalcemia secondary to hypoparathyroidim. At least 10% of the patients with this syndrome had hypocalcemic seizures which are generally improved over the first year of life because of the increase of parathyroid gland hypertrophy(More)
Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous peripheral neuropathy. The objective of this study was to find the causative mutation(s) in a demyelinating autosomal dominant CMT family. A high density SNP-based genome-wide linkage scan was performed, and causative mutations were determined by sequencing of candidate genes in(More)
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