Phenotypic and genotypic variability in Alpers syndrome.
Sofou K, Moslemi AR, Kollberg G, Bjarnadóttir I, Oldfors A, Nennesmo I, Holme E, Tulinius M, Darin N.
Sofou K, et al. Among authors: kollberg g.
Eur J Paediatr Neurol. 2012 Jul;16(4):379-89. doi: 10.1016/j.ejpn.2011.12.006. Epub 2012 Jan 10.
Eur J Paediatr Neurol. 2012.
PMID: 22237560
RESULTS: A total of 19 patients were included in the study, of whom six had pathogenic POLG1 mutations including a novel mutation (c.907 G>A, p.Gly303Arg). Complete mtDNA sequencing in the subgroup without POLG1 mutations showed 5 novel and 5 very rare mtDNA variants co …
RESULTS: A total of 19 patients were included in the study, of whom six had pathogenic POLG1 mutations including a novel mutation (c.907 …