Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
about
Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms.De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.
P2860
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@en
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@nl
type
label
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@en
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@nl
prefLabel
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@en
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@nl
P2093
P2860
P356
P1433
P1476
Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.
@en
P2093
Byung-Ok Choi
Ki Wha Chung
Young Bin Hong
Young Se Hyun
P2860
P356
10.1093/BRAIN/AWW082
P407
P577
2016-04-21T00:00:00Z