Article
Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I.
The American journal of pathology - 1 Oct 2011
Rowczenio Dorota, Dogan Ahmet, Theis Jason D, Vrana Julie A, Lachmann Helen J, Wechalekar Ashutosh D, Gilbertson Janet A, Hunt Toby, Gibbs Simon D J, Sattianayagam Prayman T, Pinney Jenny H, Hawkins Philip N, Gillmore Julian D
Abstract excerpt
The phenotype of hereditary apolipoprotein A-I amyloidosis is heterogeneous with some patients developing extensive visceral amyloid deposits and end-stage renal failure as young adults and others having only laryngeal and/or skin amyloid, which may be of little clinical consequence. Clinical management and prognosis of patients with systemic amyloidosis depend entirely on correct identification of the fibril...
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