Article
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Human mutation - 1 Oct 2020
Marchet Silvia, Legati Andrea, Nasca Alessia, Di Meo Ivano, Spagnolo Manuela, Zanetti Nadia, Lamantea Eleonora, Catania Alessia, Lamperti Costanza, Ghezzi Daniele
Abstract excerpt
Biallelic mutations in the C1QBP gene have been associated with mitochondrial cardiomyopathy and combined respiratory-chain deficiencies, with variable onset (including intrauterine or neonatal forms), phenotypes, and severity. We studied two unrelated adult patients from consanguineous families, presenting with progressive external ophthalmoplegia (PEO), mitochondrial myopathy, and without any heart involvement....
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