G.P.4.12 Analysis of the diagnostic strategy for limb girdle muscular dystrophy 2A in the UK

Abstract

Diagnosis of limb girdle muscular dystrophy type 2A can be complex due to phenotypic variability, accuracy of protein analysis in muscle biopsies, and lack of mutational hot spots in the CAPN3 gene. The aim of the study was to review clinical and biopsy data from a group of patients with known CAPN3 genetic status to validate and refine our current diagnostic strategy, which combines clinical information and protein analysis to direct gene testing. We analysed 85 patients in whom CAPN3 gene sequencing had been performed.