Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
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DOI: 10.1002/humu.24081
Abstract: 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… read more here.
Keywords: peo mitochondrial; progressive external; mutations c1qbp; external ophthalmoplegia ... See more keywords