Article
Pressure overload-induced cardiomyopathy in heterozygous carrier mice of carnitine transporter gene mutation.
Hypertension (Dallas, Tex. : 1979) - 1 Sept 2007
Takahashi Ryotaro, Asai Toru, Murakami Hisashi, Murakami Ryuichiro, Tsuzuki Michitaka, Numaguchi Yasushi, Matsui Hideo, Murohara Toyoaki, Okumura Kenji
Abstract excerpt
Primary systemic carnitine deficiency is an autosomal recessive disorder caused by a decreased renal reabsorption of carnitine because of mutations of the carnitine transporter OCTN2 gene, and hypertrophic cardiomyopathy is a common clinical feature of homozygotes. Although heterozygotes for OCTN...
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