Chronic progressive external ophthalmoplegia and myalgia associated with tubular aggregates

Tubular aggregates represent a distinct myopathological feature characterized by basophilic sharply demarcated irregularly shaped subsarcolemmal zones consisting of parallel double-walled tubules of unknown subcellular origin. They are found on rare occasions in a wide spectrum of myopathies, but their significance for the development of muscular symptoms has not yet been fully established. We describe a patient with chronic progressive external ophthalmoplegia (CPEO) associated with exercise-induced myalgia and tubular aggregates in skeletal muscle. The association of CPEO with tubular aggregates has not been reported before and represents an important differential diagnosis to other syndromes associated with CPEO, especially mitochondrial encephalomyopathies.