MYORG Mutation Heterozygosity Is Associated With Brain Calcification.

You ChenZhidong CenXinhui ChenHaotian WangSi ChenDehao YangFeng FuLebo WangPeng LiuHongwei WuXiaosheng ZhengFei XieZhiyuan OuyangYun ZhangYongji ZhouXuerong HuangFeng WangGuangsu HuangHongwei AnYubing LiangWeijun HongAnli WangShuangling HuangWenhai ChenLili YinYan YangHuayun HuangRuxin ZengNa ZhaoBiao JiangBaorong ZhangWei Luonull null

Published in: Movement disorders : official journal of the Movement Disorder Society (2020)

Presence of brain calcifications in individuals with heterozygous MYORG mutations suggested a semidominant inheritance pattern with incomplete penetrance. This finding further expanded the genotype-phenotype correlations of MYORG-related primary familial brain calcification. © 2020 International Parkinson and Movement Disorder Society.

Keyphrases

resting state
white matter
functional connectivity
chronic kidney disease
early onset
cerebral ischemia
multiple sclerosis
dna methylation