Article
Bilateral striatal necrosis caused by a founder mitochondrial 14459G>A mutation in two independent Japanese families.
Journal of the neurological sciences - 15 Jul 2017
Hirayanagi Kimitoshi, Okamoto Yuji, Takai Eriko, Ishizawa Kunihiko, Makioka Kouki, Fujita Yukio, Kaneko Yuka, Tanaka Makoto, Takashima Hiroshi, Ikeda Yoshio
Abstract excerpt
Bilateral striatal necrosis (BSN) has many causes and is characterized by unique clinical and neuroradiological features. Herein, we report a clinical and genetic analysis of three BSN cases from two independent Japanese families harboring a mitochondrial DNA (mtDNA) 14459G>A mutation located in a coding region of the NADH dehydrogenase subunit 6 gene. In the first family, two male siblings from...
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