Article
A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Parkinsonism & related disorders - 1 Apr 2023
Chen Huan-Yun, Lin Han-I, Hsu Chia-Lang, Chen Pei-Lung, Huang Cheng-Yen, Teng Shu-Chun, Lin Chin-Hsien
Abstract excerpt
BACKGROUND: Mitochondrial membrane protein‒associated neurodegeneration (MPAN) is a rare genetic disease characterized by progressive neurodegeneration with brain iron accumulations combined with neuronal α-synuclein and tau aggregations. Mutations in C19orf12 have been associated with both autosomal recessive and autosomal dominant inheritance patterns of MPAN. METHODS: We present clinical features and...
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