Article
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.
Parkinsonism & related disorders - 1 Jul 2018
Kawarai Toshitaka, Miyamoto Ryosuke, Nakagawa Eiji, Koichihara Reiko, Sakamoto Takashi, Mure Hideo, Morigaki Ryoma, Koizumi Hidetaka, Oki Ryosuke, Montecchiani Celeste, Caltagirone Carlo, Orlacchio Antonio, Hattori Ayako, Mashimo Hideaki, Izumi Yuishin, Mezaki Takahiro, Kumada Satoko, Taniguchi Makoto, Yokochi Fusako, Saitoh Shinji, Goto Satoshi, Kaji Ryuji
Abstract excerpt
BACKGROUND: Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with complex early-onset dystonia. Almost all reported KMT2B mutations occurred de novo in the paternal germline or in the early development of the patient. We describe clinico-genetic features on four Japanese patients with novel de novo mutations and demonstrate the phenotypic spectrum of KMT2B...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.