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...

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Bibliographic Details
Main Authors: 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: Article
Language:English
Published: Frontiers Media S.A. 2023-11-01
Series:Frontiers in Genetics
Subjects:
mitochondrial myopathy
cytochrome c oxidase deficiency
COA8
mitochondrial encefalomyopathies
whole exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1278572/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1278572/full

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