First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2021.04.002
Abstract: Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case… read more here.
Keywords: primary familial; calcification; gene; brain ... See more keywords
Ischemic stroke in a patient with Fahr’s disease carrying biallelic mutations in the MYORG gene
Sign Up to like & getrecommendations! Published in 2022 at "Neurosciences"
DOI: 10.17712/nsj.2022.4.20220047
Abstract: Fahr’s disease (FD) is a neurodegenerative disorder characterized by symmetric calcifications in the bilateral basal ganglia and dentate nuclei. Mutations in six genes are known to cause FD. In the present case, a 44-year-old woman… read more here.
Keywords: myorg gene; stroke patient; fahr disease; ischemic stroke ... See more keywords