Open AccessFabry Disease in Families With Hypertrophic Cardiomyopathy
Author(s) -
Berglind Aðalsteinsdóttir,
Runólfur Pálsson,
Robert J. Desnick,
Maríanna Garðarsdóttir,
Polakit Teekakirikul,
Martin S. Maron,
Evan Appelbaum,
Ulf Neisius,
Barry J. Maron,
Michael A. Burke,
Brenden Chen,
Silvère Pagant,
Christoffer Valdorff Madsen,
Ragnar Daníelsen,
Reynir Arngrı́msson,
Ulla FeldtRasmussen,
Jonathan G. Seidman,
Christine E. Seidman,
Gunnar Gunnarsson
Publication year - 2017
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-3268
pISSN - 1942-325X
DOI - 10.1161/circgenetics.116.001639
Subject(s) - hypertrophic cardiomyopathy , cardiomyopathy , medicine , cardiology , disease , fabry disease , heart disease , heart failure
The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B).
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