Clinical phenotypic diversity of NOTCH2NLC -related disease in the largest case series of inherited peripheral neuropathy in Japan.

Masahiro AndoYujiro HiguchiJun-Hui YuanAkiko YoshimuraMika DozonoTakahiro HobaraFumikazu KojimaYutaka NoguchiMika TakeuchiJun TakeiYu HiramatsuSatoshi NozumaTomonori NakamuraYusuke SakiyamaAkihiro HashiguchiEiji MatsuuraYuji OkamotoJun SoneHiroshi Takashima

Published in: Journal of neurology, neurosurgery, and psychiatry (2023)

-related disease, such as non-length-dependent motor dominant phenotype and prominent autonomic involvement. This study also emphasise the importance of genetic screening, regardless of the age of onset and type of CMT, particularly in patients of Asian origin, presenting with intermediate conduction velocities and dysautonomia.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
peritoneal dialysis
prognostic factors
genome wide
patient reported outcomes
heart rate
case report
drug induced
patient reported