Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant

Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect. Causative mutations are mainly identified in structural COX subunits or in proteins involved in the maturation and assembly of the COX holocompl...

Bibliografski detalji
Glavni autori:	Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Format:	Članak
Jezik:	English
Izdano:	Frontiers Media S.A. 2023-11-01
Serija:	Frontiers in Genetics
Teme:	mitochondrial myopathy cytochrome c oxidase deficiency COA8 mitochondrial encefalomyopathies whole exome sequencing
Online pristup:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1278572/full

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