Article
Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2000
Janunger T, Anan I, Holmgren G, Lövheim O, Ohlsson P I, Suhr O B, Tashima K
Abstract excerpt
Cardiac failure in transthyretin (TTR) amyloidosis patients has been shown to be caused by different mutations in the TTR gene. In the present case, a 73-year-old man from Northern Sweden was evaluated for heart failure. Amyloid deposits were found in subcutaneous fat and in intestinal biopsies. The presence of a variant form of TTR was detected in the plasma by electrospray ionisation mass spectrometry (ESI-MS)....
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