Article
[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
Rinsho shinkeigaku = Clinical neurology - 1 Jan 2014
Mukai Masako, Sugaya Keizo, Matsubara Shiro, Cai Huaying, Yabe Ichiro, Sasaki Hidenao, Nakano Imaharu
Abstract excerpt
Multiple mitochondrial DNA (mtDNA) deletions usually occur secondarily to a mutation in one of the enzymes involved in mtDNA maintenance, such as polymerase γ, which is encoded by the nuclear polymerase γ1 gene (POLG1) and POLG2. Patients with multiple mtDNA deletion disorders show clinical heterogeneity of symptoms, in addition to usually seen progressive external ophthalmoplegia (PEO). We conducted clinical,...
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