APOA1 related amyloidosis: a case report and literature review.

Abstract:

OBJECTIVES:Amyloidosis results from local or systemic extracellular deposition of insoluble protein fibrils and is associated with certain rare mutations in APOA1 encoding apolipoprotein (apo) A-I. DESIGN AND METHODS:In a patient with renal-predominant amyloidosis with neuropathy, we found the APOA1 G26R mutation. CONCLUSIONS:While the spectrum of APOA1 mutations provides no particular mechanistic insights, molecular diagnosis may still be important due to clinical differences between amyloidosis resulting from mutation in APOA1 vs. other genes.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Joy T,Wang J,Hahn A,Hegele RA

doi

10.1016/s0009-9120(03)00110-3

subject

Has Abstract

pub_date

2003-11-01 00:00:00

pages

641-5

issue

8

eissn

0009-9120

issn

1873-2933

pii

S0009912003001103

journal_volume

36

pub_type

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