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Article

Novel C19orf12 loss-of-function variant leading to neurodegeneration with brain iron accumulation.

Neurocase - 1 Dec 2021

Lefter Antonia, Mitrea Iulia, Mitrea Dan, Plaiasu Vasilica, Bertoli-Avella Aida, Beetz Christian, Cozma Liviu, Tulbă Delia, Mitu Cristina Elena, Popescu Bogdan Ovidiu

Abstract excerpt

Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited disorders characterised by cerebral iron overload mainly in the basal ganglia. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a form of NBIA caused by pathogenic C19orf12 gene variants. We report on a Romanian patient with MPAN confirmed through exome sequencing, revealing a homozygous nonsense variant in the...

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PMID: 34983316
DOI: 10.1080/13554794.2021.2022703

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