LIMB GIRDLE MUSCULAR DYSTROPHIES: P.147 A simple and rapid neutrophils immunoassay for dysferlinopathies

Abstract

Dysferlin is a protein of approximately 237 kDa predominantly expressed in striated muscle. Mutations in the gene encoding for dysferlin (DYSF) are responsible for various types of rare autosomal recessive muscular dystrophies such as limb girdle muscular dystrophy R2 (formerly LGMD2B) and distal Miyoshi Myopathy. Absence of dysferlin expression assessed by immunoblot of muscle biopsies or CD14+ peripheral blood monocytes is a highly specific diagnostic indicator of disease. CD14+ immunoblot is generally preferred over the muscle biopsy as being a less invasive and more cost-effective assay.