Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.

ABSTRACT: Duchenne and Becker muscular dystrophy are X-linked recessive inherited disorders characterized by progressive weakness due to skeletal muscle degeneration. Different mutations in the DMD gene, which encodes for dystrophin protein, are responsible for these disorders. The aim of our study was to investigate the relationship between type, size, and location of the mutation that occurs in the DMD gene and their effect on dystrophin protein expression in a cohort of 40 male dystrophinopathy patients and nine females, possible carriers. We evaluated the expression of dystrophin by immunofluorescence and immunoblotting. The mutational spectrum of the DMD gene was established by MLPA for large copy number variants, followed by HRM analysis for point mutations and sequencing

SUBMITTER: Gaina G 

PROVIDER: S-EPMC8689184 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature