Varaico: Literature-Extracted Genetic Variants

Gene:MYORG
Variant:p.R611L
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MYORG

NM_020702.5:p.R611L

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

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

MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism.

Chelban V et al.

Neurology. Genetics, 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."