Article
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
Molecular genetics and metabolism - 1 Dec 2009
Purevsuren Jamiyan, Fukao Toshiyuki, Hasegawa Yuki, Kobayashi Hironori, Li Hong, Mushimoto Yuichi, Fukuda Seiji, Yamaguchi Seiji
Abstract excerpt
Mitochondrial trifunctional protein (MTP) deficiency is a rare inherited metabolic disorder of mitochondrial fatty acid oxidation. We newly characterized three novel mutations in 2 Japanese patients with MTP deficiency, and investigated the clinical and molecular aspects of 5 Japanese patients including 3 previously reported cases. Herein, we describe the characterization of four missense mutations, R214C, H346R,...
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