Mitochondrial neuropathy and neurogenic features in mitochondrial myopathy

Abstract Mitochondrial diseases (MIDs) involve multiple organs including peripheral nerves and skeletal muscle. Mitochondrial neuropathy (MN) and mitochondrial myopathy (MM) are commonly associated and linked at the neuromuscular junction (NMJ). Herein we review MN in connection with neurogenic features of MM, and pathological evidence for the involvement of the peripheral nerve and NMJ in MID patients traditionally assumed to have predominantly MM. MN is not uncommon, but still likely under-reported, and muscle biopsies of MM commonly exhibit neurogenic features. Pathological examination remains the gold standard to assess the nerve and muscle changes in patients with MIDs. Ultrastructural studies by electron microscopy are often necessary to fully characterize the pathology of mitochondrial cytopathy in MN and MM.