Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

ABSTRACT:

Objective

To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD).

Background

LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystrophic findings on muscle biopsy. Heterozygous CAPN3 mutations are associated with autosomal dominant LGMD-4, while biallelic mutations can cause autosomal recessive LGMD-1. Diagnosis is currently often based on invasive methods requiring muscle biopsy or blood tests. In most cases Western blotting (WB) analysis from muscle biopsy is essential for a diagnosis, as muscle samples are currently the only known tissues to express the full-length CAPN3 isoform.

Methods

We analyzed CAPN3 in a cohort including 60

SUBMITTER: Aguti S 

PROVIDER: S-EPMC10886967 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature