Case report: Rare novel MIPEP compound heterozygous variants presenting with hypertrophic cardiomyopathy, severe lactic acidosis and hypotonia in a Chinese infant

BACKGROUND: Mitochondrial intermediate peptidase, encoded by the MIPEP gene, is involved in the processing of precursor mitochondrial proteins related to oxidative phosphorylation. Only a few studies have shown that mutations in MIPEP can cause combined oxidative phosphorylation deficiency-31 (COXPD...

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Detalles Bibliográficos
Autores principales: Wang, Ling, Lu, Pengtao, Yin, Jie, Xu, Kangkang, Xiang, Dandan, Zhang, Zhongman, Zhang, Han, Zheng, Bixia, Zhou, Wei, Wang, Chunli, Yang, Shiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884671/
https://www.ncbi.nlm.nih.gov/pubmed/36727025
http://dx.doi.org/10.3389/fcvm.2022.1095882

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884671/
https://www.ncbi.nlm.nih.gov/pubmed/36727025
http://dx.doi.org/10.3389/fcvm.2022.1095882

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