Article
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
American journal of medical genetics. Part A - 1 Oct 2011
Etheridge Susan P, Bowles Neil E, Arrington Cammon B, Pilcher Thomas, Rope Alan, Wilde Arthur A M, Alders Marielle, Saarel Elizabeth V, Tavernier Rene, Timothy Katherine W, Tristani-Firouzi Martin
Abstract excerpt
Timothy syndrome type 1 (TS-1) is a rare disorder that affects multiple organ systems and has a high incidence of sudden death due to profound QT prolongation and resultant ventricular arrhythmias. All previously described cases of TS-1 are the result of a missense mutation in exon 8A (p.G406R), an alternatively spliced variant of the L-type calcium channel gene (Ca(v)1.2, CACNA1C). Most patients reported in the...
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