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01-05-2019 | Tremor | Short Communication

Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

Authors: Eliana Marisa Ramos, Alessandro Roca, Noravit Chumchim, Deepika Reddy Dokuru, Victoria Van Berlo, Giovanna De Michele, Maria Lieto, Enrico Tedeschi, Giuseppe De Michele, Giovanni Coppola

Published in: Neurogenetics | Issue 2/2019

Abstract

Primary familial brain calcification (PFBC) is a rare disorder mostly characterized by calcium deposits in the basal ganglia and a wide spectrum of neurologic and psychiatric symptoms, typically inherited as an autosomal dominant trait. Recently, MYORG was reported as the first autosomal recessive causal gene in PFBC patients of Chinese and Middle Eastern origin. Herein, we describe the first PFBC patient of European descent found to carry a novel homozygous MYORG mutation (p.N511Tfs*243). Interestingly, the patient’s father, a heterozygous carrier of the same mutation, showed diffuse bilateral cerebral calcifications with no symptoms other than very mild postural tremor.

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Title: Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family
Authors: Eliana Marisa Ramos
Alessandro Roca
Noravit Chumchim
Deepika Reddy Dokuru
Victoria Van Berlo
Giovanna De Michele
Maria Lieto
Enrico Tedeschi
Giuseppe De Michele
Giovanni Coppola
Publication date: 01-05-2019
Publisher: Springer Berlin Heidelberg
Keywords: Tremor
Dysarthria
Published in: Neurogenetics / Issue 2/2019
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-019-00571-8

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Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family

Abstract

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Springer Medicine

Abstract

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