MYORG Mutation Heterozygosity Is Associated With Brain Calcification

Biallelic mutations in the MYORG gene were first identified as the cause of recessively inherited primary familial brain calcification. Interestingly, some heterozygous carriers also exhibited brain calcifications.To further investigate the role of single heterozygous MYORG mutations in the development of brain calcifications.A nation-wide cohort of Chinese primary familial brain calcification probands was enrolled from March 2016 through...