A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration

Chen, Huan-YunHuan-YunChenLin, Han-IHan-ILinHsu, Chia-LangChia-LangHsuPEI-LUNG CHENHuang, Cheng-YenCheng-YenHuangSHU-CHUN TENGCHIN-HSIEN LIN2023-05-122023-05-122023-041353-8020https://scholars.lib.ntu.edu.tw/handle/123456789/631016Mitochondrial 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.enPROTEIN; SUBTYPE; PATHWAY; SERVERA novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegenerationjournal article10.1016/j.parkreldis.2023.105353368631132-s2.0-85149061947WOS:000965787300001https://api.elsevier.com/content/abstract/scopus_id/85149061947