MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification
- 23 August 2019
- journal article
- review article
- Published by Springer Science and Business Media LLC in Current Neurology and Neuroscience Reports
- Vol. 19 (10), 70
- https://doi.org/10.1007/s11910-019-0986-z
Abstract
Until recently, the gene associated with the recessive form of familial brain calcification (PFBC, Fahr disease) was unknown. MYORG, a gene that causes recessive PFBC was only recently discovered and is currently the only gene associated with a recessive form of this disease. Here, we review the radiological and clinical findings in adult MYORG mutation homozygous and heterozygous individuals.This publication has 30 references indexed in Scilit:
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