Associated Papers
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Zhao T et al.
Molecular Genetics & Genomic Medicine, 2023
The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity.
Meek RW et al.
Plos Biology, 2022
36129849 (PubMed )
Supplement: pbio.3001764.s007.pdf
The first Japanese case of primary familial brain calcification caused by an MYORG variant.
Kume K et al.
Journal of Human Genetics, 2020
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Bauer M et al.
Current Neurology and Neuroscience Reports, 2019
MYORG is associated with recessive primary familial brain calcification.
Arkadir D et al.
Annals of Clinical and Translational Neurology, 2019
Select a paper to view details