[1P-1245] Heterozygous missense variant (Arg284His) of TDRKH associated with autosomal dominant motor neuropathy.

〇Kengo Kosaka¹, Shiroh Miura², Tomofumi Shimojo¹, Shuji Nagata³, Takuya Morikawa¹, Ryuta Fujioka⁴, Takuo Nomura⁵, Takayuki Taniwaki², Hiroki Shibata¹ (1.Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 2.Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, 3.Department of Radiology, Kurume University School of Medicine, 4.Department of Food and Nutrition, Beppu University Junior College, 5.Dr. Nomura Clinic of Internal Medicine and Neurology)

Exome sequencing、Hereditary motor neuropathy、TDRKH、Tudor domain