Associated Papers
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
Rimoldi M et al.
Frontiers in Genetics, 2023
38098475 (PubMed )
Supplement: DataSheet1.PDF
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation.
Hedberg-Oldfors C et al.
Neurology. Genetics, 2020
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L et al.
American Journal of Human Genetics, 2014
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