A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
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ABSTRACT:
SUBMITTER: Lamquet S
PROVIDER: S-EPMC6414494 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
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A likely pathogenic variant in the <i>SLC20A2</i> gene presenting with progressive myoclonus.
Lamquet Simon S Ramos Eliana M EM Legati Andrea A Coppola Giovanni G Hemelsoet Dimitri D Vanakker Olivier M OM
Annals of clinical and translational neurology 20190201 3
A 60-year-old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the <i>SLC20A2</i> gene revealed a missense mutation (c.541C>T, p.(Arg181Trp)), in silico predicted to be deleterious and not found in available databases. Segregation analysis confirmed his asymptomatic fat ...[more]
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