Case Report: A Novel Intronic Mutation in AIFM1 Associated With Fatal Encephalomyopathy and Mitochondrial Disease in Infant

• Main Authors: Qi Peng (Author), Keze Ma (Author), Linsheng Wang (Author), Yinghua Zhu (Author), Yaozhong Zhang (Author), Chunbao Rao (Author), Dong Luo (Author), Zaixue Jiang (Author), Wei Lai (Author), Huiling Lu (Author), Chaohui Duan (Author), Zhongjun Zhou (Author), Xiaomei Lu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundThe AIFM1 gene is located on chromosome Xq26.1 and encodes a flavoprotein essential for nuclear disassembly in apoptotic cells. Mutations in this gene can cause variable clinical phenotypes, but genotype-phenotype correlations of AIFM1-related disorder have not yet been fully determined be...