Cardiac symptoms in cases of neurodegeneration associated with mutations in C19orf12

Abstract

Introduction: Neurodegeneration with brain iron accumulation (NBIA) comprises a group of rare genetic disorders associated with progressive movement disorders and excessive iron accumulation in the brain. One of the NBIA subtypes, mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by a mutation in the orphan gene C19orf12, which role is not described yet. As MPAN is caused by dysfunction of the protein expressed in mitochondria we screened MPAN patients for heart disease, typical for mitochondrial diseases.