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

• Главные авторы: Qi Peng (Автор), Keze Ma (Автор), Linsheng Wang (Автор), Yinghua Zhu (Автор), Yaozhong Zhang (Автор), Chunbao Rao (Автор), Dong Luo (Автор), Zaixue Jiang (Автор), Wei Lai (Автор), Huiling Lu (Автор), Chaohui Duan (Автор), Zhongjun Zhou (Автор), Xiaomei Lu (Автор)
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• Опубликовано: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Предметы: article
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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...