Double Immunofluorescence Study is Sensitive for Detection of Protein Mislocalization in Biopsied Muscle Specimen, and Useful for Diagnosis of Muscular Dystrophy

Background: Advances in whole exome sequencing (WES) provide us not only candidate variants potentially pathogenic for muscular dystrophy, but also numerous variants of unknown significance. To confirm the pathogenicity of variants, protein analyses with conventional 3,3-diaminobenzidine (DAB) immunohistochemistry or western blot of biopsied muscle are helpful for confirming the diagnosis, when the protein amount is markedly reduced. However, utility of such analyses is limited, when the amount of the protein is comparable between controls and subjects.