Article
No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.
Molecular genetics and metabolism - 1 Dec 2012
Kobayashi Masahisa, Ohashi Toya, Fukuda Takahiro, Yanagisawa Tomoyoshi, Inomata Takayuki, Nagaoka Takashi, Kitagawa Teruo, Eto Yoshikatsu, Ida Hiroyuki, Kusano Eiji
Abstract excerpt
BACKGROUND: Fabry disease is an X-linked lysosomal disorder resulting from mutations in the α-galactosidase A (GLA) gene. Recent reports described that the E66Q mutation of GLA is not a disease-causing mutation. However, no pathological study was reported. We carried out pathological studies using a cardiac biopsy specimen from a patient with the E66Q mutation. MATERIALS AND METHODS: The case was a 34 year old...
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