A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study
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A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: A Chinese family study
BACKGROUND Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium c...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0177532