Tag: C1QBP

Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions

Case Reports . 2021 Jul 4;S0960-8966(21)00176-0. doi: 10.1016/j.nmd.2021.06.014. Online ahead of print. Le Guo  1 , Periyasamy Govindaraj  2 , Mariëlle Kievit  3 , Irenaeus F M de Coo  1 , Mike Gerards  4 , Debby M E I Hellebrekers  5 , Alphons P M Stassen  5 , Narayanappa Gayathri  6 , Arun B Taly  7 , Bindu Parayil…

Continue Reading Whole exome sequencing reveals a homozygous C1QBP deletion as the cause of progressive external ophthalmoplegia and multiple mtDNA deletions