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

BACKGROUND: The 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...

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Detalles Bibliográficos
Autores principales: Peng, Qi, Ma, Keze, Wang, Linsheng, Zhu, Yinghua, Zhang, Yaozhong, Rao, Chunbao, Luo, Dong, Jiang, Zaixue, Lai, Wei, Lu, Huiling, Duan, Chaohui, Zhou, Zhongjun, Lu, Xiaomei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194441/
https://www.ncbi.nlm.nih.gov/pubmed/35712626
http://dx.doi.org/10.3389/fped.2022.889089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194441/
https://www.ncbi.nlm.nih.gov/pubmed/35712626
http://dx.doi.org/10.3389/fped.2022.889089

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