Associated Papers
[A case report of a family with Primary familial brain calcification caused by a novel MYORG gene variants].
Xia E et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Novel Compound Heterozygous Mutation on MYORG Gene in a Chinese Patient with Primary Familial Brain Calcification.
Lin J et al.
Neurology India, 2025
A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification.
Yao XJ et al.
Bmc Pulmonary Medicine, 2024
A novel MYORG mutation causes primary familial brain calcification with migraine: Case report and literature review.
Song T et al.
Frontiers in Neurology, 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
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon L et al.
Brain : a Journal of Neurology, 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
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