Article
Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).
International heart journal - 1 Jan 2011
Nakagawa Naoki, Maruyama Hiroki, Ishihara Takayuki, Seino Utako, Kawabe Jun-ichi, Takahashi Fumihiko, Kobayashi Motoi, Yamauchi Atsushi, Sasaki Yukie, Sakamoto Naka, Ota Hisanobu, Tanabe Yasuko, Takeuchi Toshiharu, Takenaka Toshihiro, Kikuchi Kenjiro, Hasebe Naoyuki
Abstract excerpt
Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with...
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