Article
Primary Familial Brain Calcification Caused by a Novel Compound Heterozygous Mutation in the MYORG Gene.
Acta neurologica Taiwanica - 25 Mar 2022
Tsai Ming-Chen, Lee Jiunn-Tay, Sung Yueh-Feng, Yang Fu-Chi
Abstract excerpt
BACKGROUND PURPOSE: To demonstrate a novel compound heterozygous mutation in MYORG-related recessive primary familial brain calcification. CASE REPORT: We report a case of primary familial brain calcification with newly-discovered compound heterozygous mutation in the MYORG gene presenting with progressive parkinsonism, cerebellar signs, and typical diffuse brain calcifications. CONCLUSION: Clinicians should...
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