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
A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review.
Song T et al.
Frontiers in Neurology, 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-related disease is associated with central pontine calcifications and atypical parkinsonism.
Chelban V et al.
Neurology. Genetics, 2020
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Bauer M et al.
Current Neurology and Neuroscience Reports, 2019
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon L et al.
Brain : a Journal of Neurology, 2019
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