Article
A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase A gene.
Internal medicine (Tokyo, Japan) - 1 Jan 2013
Watanabe Tohru, Hanawa Haruo, Suzuki Tomoyasu, Jiao Shuang, Yoshida Kaori, Ogura Minako, Ohno Yukako, Hayashi Yuka, Ito Masahiro, Kashimura Takeshi, Obata Hiroaki, Sato Akinori, Ozawa Takuya, Kodama Makoto, Sakuraba Hitoshi, Minamino Tohru
Abstract excerpt
We herein describe the case of a 58-year-old man who presented with dilated-phase hypertrophic cardiomyopathy (HCM) and required an implantable cardioverter defibrillator implant. Subsequently, the patient was diagnosed with Fabry disease (FD), which was suspected based on the results of an endomyocardial biopsy and diagnosed following demonstration of deficient α-galactosidase A (GLA) activity. Molecular studies...
Topics
- Fabry Disease
- Gene Expression Regulation
- Humans
- Introns
- Male
- Middle Aged
- Mutation
- Myocardium
- RNA Splice Sites