Although best known for its role in heart disease, the sarcomere—the fundamental unit of muscle contraction—is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-date review of diseases caused by mutated proteins in the different sub-compartments of the sarcomere, document the techniques currently being used to investigate the pathobiological bases of the diseases, which remain largely unknown, and discuss possible therapeutic options.