Article
Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions.
Neuromuscular disorders : NMD - 1 Sept 2021
Guo Le, Govindaraj Periyasamy, Kievit Mariëlle, de Coo Irenaeus F M, Gerards Mike, Hellebrekers Debby M E I, Stassen Alphons P M, Gayathri Narayanappa, Taly Arun B, Sankaran Bindu Parayil, Smeets Hubert J M
Abstract excerpt
Whole exome sequencing (WES), analyzed with GENESIS and WeGET, revealed a homozygous deletion in the C1QBP gene in a patient with progressive external ophthalmoplegia (PEO) and multiple mtDNA deletions. The gene encodes the mitochondria-located complementary 1 Q subcomponent-binding protein, involved in mitochondrial homeostasis. Biallelic mutations in C1QBP cause mitochondrial cardiomyopathy and/or PEO with...
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