Muscle biopsy essential diagnostic advice for pathologists

Abstract Background Muscle biopsies are important diagnostic procedures in neuromuscular practice. Recent advances genetic analysis have profoundly modified Myopathology diagnosis. Main body The main goals of this review are: (1) to describe muscle biopsy techniques for non specialists; (2) provide practical information the team involved diagnosis diseases; (3) report fundamental rules site choice and adequacy; (4) highlight importance liquid nitrogen workup. Routine include: histochemical stains reactions; immunohistochemistry immunofluorescence; electron microscopy; mitochondrial respiratory chain enzymatic studies; (5) molecular studies. disease is a challenge, as it should integrate data from different techniques. Conclusion Formalin-fixed paraffin embedded samples alone almost always lead inconclusive or unspecific results. Liquid frozen sections imperative interpretation possible context detailed clinical, neurophysiological, serum enzymes data. imaging studies strongly recommended useful differential immune mediated myopathies, muscular dystrophies, congenital myopathies. may confirm pathogenicity new gene variants, guide cost-effective studies, phenotypic doubtful cases. For some patients with definite be achieved only if performed DNA extracted tissue due organ specific mutation load.