Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.M35K
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MYORG

NM_020702.5:p.M35K

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

Paroxysmal Kinesigenic Dyskinesia Secondary to Brain Calcification with a Homozygous MYORG Mutation.

Du J et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report.

Chen SY et al.

Bmc Neurology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."