Ki Wha Chung
Affiliation: Kongju National University
Park S, Jung N, Myung S, Choi Y, Chung K, Choi B, et al
. Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A. Int J Mol Sci. 2018;19: pubmed publisher
..These findings demonstrate that the transplantation of heterologous T-MSC-SCs induced neuromuscular regeneration in mice and suggest they could be useful for the therapeutic treatment of patients with CMT1A disease. ..
Kim S, NAM S, Kanwal S, Nam D, Yoo D, Chae J, et al
. BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. Genes Genomics. 2018;40:1269-1277 pubmed publisher
..We described a BAG3 mutation patient with atypical phenotype of CMT and myopathy, and those are expected to broaden the clinical spectrum of the disease and help to diagnose it. ..
Park H, Choi Y, Kim S, Kim S, Hong Y, Yoon B, et al
. Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. J Clin Neurol. 2015;11:183-7 pubmed publisher
..This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy. ..
NAM S, Kanwal S, Nam D, Lee M, Kang T, Jung S, et al
. Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord. 2018;28:502-507 pubmed publisher
..This study may provide the first evidence that polymorphism in the miR gene is associated with the CMT1A phenotype. ..
Nam D, Yoo D, Choi S, Choi B, Chung K. Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations. Genes Genomics. 2018;40:77-84 pubmed publisher
..We confirmed a wide inter- and intra-allelic phenotypic spectrum by the mutations in the KIF5A. ..
Kim S, Yoo S, NAM S, Lee J, Chung K. Identification of Korean-specific SNP markers from whole-exome sequencing data. Int J Legal Med. 2016;130:669-77 pubmed publisher
..These selected SNPs will be used to develop forensic markers and are expected to be widely used for additional individual identification, ethnic discrimination, and linkage analysis for kinship tests. ..
Hong Y, Lee J, Park J, Choi Y, Hyun Y, Yoon B, et al
. A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease. BMC Med Genet. 2013;14:125 pubmed publisher
..Therefore, this study is the first report of a new subtype of autosomal recessive axonal CMT by a compound heterozygous mutation in HADHB, and will expand the clinical and genetic spectrum of HADHB. ..
Choi Y, Hong Y, Jung S, Lee J, Kim Y, Park H, et al
. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol. 2015;15:179 pubmed publisher
..This report expands the clinical spectrum of diseases caused by mutations of MPV17, and we recommend MPV17 gene screening for axonal peripheral neuropathies. ..
Yoo D, Choi Y, Nam D, Choi S, Kim J, Choi B, et al
. Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion. 2017;35:54-58 pubmed publisher
..Because this study is the second report of an autosomal recessive mitochondrial encephalomyopathy patient with a FASTKD2 mutation, it will extend the phenotypic spectrum of the FASTKD2 mutation. ..