Article
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2013
Schulte Eva C, Claussen Malte C, Jochim Angela, Haack Tobias, Hartig Monika, Hempel Maja, Prokisch Holger, Haun-Jünger Ursula, Winkelmann Juliane, Hemmer Bernhard, Förschler Annette, Ilg Rüdiger
Abstract excerpt
BACKGROUND: Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN). METHODS/RESULTS: We describe the...
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