Article
[Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with differing genetics].
Der Nervenarzt - 1 Feb 2001
Deschauer M, Müller T, Dreha S, Zierz S
Abstract excerpt
UNLABELLED: Chronic progressive external ophthalmoplegia (CPEO) is considered the most frequent form of mitochondrial encephalomyopathies. Most cases occur sporadically. We investigated 18 consecutive patients with CPEO. Thirteen cases were sporadic and five cases were familial. In one family with maternal inheritance the mitochondrial point mutation A3243G was identified. In index patients of three other...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.