G.P.15.03 A new antibody specifically recognizes muscles from laminopathy patients

Abstract

Background: Mutations in LMNA, which encodes A-type lamin, causes wide variety of hereditary diseases such as Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy type 1B (LGMD1B), and dilated cardiomyopathy with conduction defect. Early diagnosis of these diseases is important because of the high frequency of sudden death by cardiac problem. However, mutation screening is the only way to make a diagnosis for laminopathy. Objective: To make the specific antibody for diagnosis of EDMD/LGMD1B patients with LMNA mutations.