Article
Clinical Phenotype and Segregation of Mitochondrial 3243A>G Mutation in 2 Pairs of Monozygotic Twins.
JAMA neurology - 1 Aug 2016
Maeda Kengo, Kawai Hiromichi, Sanada Mitsuru, Terashima Tomoya, Ogawa Nobuhiro, Idehara Ryo, Makiishi Tetsuya, Yasuda Hitoshi, Sato Shun-Ichi, Hoshi Ken-Ichi, Yahikozawa Hiroyuki, Nishi Katsuji, Itoh Yasushi, Ogasawara Kazumasa, Tomita Kazuo, Indo Hiroko P, Majima Hideyuki J
Abstract excerpt
IMPORTANCE: The regulatory factors explaining the wide spectrum of clinical phenotypes for mitochondrial 3243A>G mutation are not known. Crosstalk between nuclear genes and mitochondrial DNA might be one factor. OBSERVATIONS: In this case series, we compared 2 pairs of male twins with the mitochondrial 3243 A>G mutation and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome with a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.