Article
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Proceedings of the National Academy of Sciences of the United States of America - 7 Jun 2005
Splawski Igor, Timothy Katherine W, Decher Niels, Kumar Pradeep, Sachse Frank B, Beggs Alan H, Sanguinetti Michael C, Keating Mark T
Abstract excerpt
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All TS individuals have syndactyly (webbing of fingers and toes). We discovered that TS resulted from a recurrent, de novo cardiac L-type calcium channel (CaV1.2)...
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