Associated Papers
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
40195116 (PubMed )
Supplement: mmc1.xlsx › Multiple_molecular_diagnoses
Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).
Soleimani P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
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
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
Zeng YH et al.
Frontiers in Genetics, 2021
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Bauer M et al.
Current Neurology and Neuroscience Reports, 2019
Evaluation of MYORG mutations as a novel cause of primary familial brain calcification.
Chen Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Biallelic Mutations in MYORG Cause Autosomal Recessive Primary Familial Brain Calcification.
Yao XP et al.
Neuron, 2018
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