Canine inherited myopathy as a translational model

Abstract

The inherited myopathies include channelopathies, myotonias, metabolic and mitochondrial conditions, congenital myopathies, and the muscular dystrophies. This review focuses on a single centronuclear (congenital) myopathy, termed X-linked myotubular myopathy (XLMTM). X-linked myotubular myopathy of Labrador retrievers have recently become a valuable model for preclinical studies. In developing preclinical trials in dogs, the clinical course of the XLMTM syndrome in Labrador retrievers evolves rapidly, so affected dogs must be treated and assessed as early as ten weeks of age. Although interventional therapeutic studies in XLMTM dogs are in the early preclinical stages, promising results have already been seen. Having a dependable breeding program is absolutely essential to the success of these preclinical experiments. Future studies using this canine model should shed further light on the human disease.