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.

中文翻译：

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线粒体神经病和线粒体肌病的神经源性特征

线粒体疾病 (MID) 涉及多个器官，包括外周神经和骨骼肌。线粒体神经病 (MN) 和线粒体肌病 (MM) 通常在神经肌肉接头 (NMJ) 处相关联。在此，我们回顾了与 MM 的神经源性特征相关的 MN，以及传统上认为主要为 MM 的 MID 患者中周围神经和 NMJ 受累的病理证据。MN 并不少见，但仍有可能被低估，MM 的肌肉活检通常表现出神经源性特征。病理检查仍然是评估 MID 患者神经和肌肉变化的金标准。通常需要通过电子显微镜进行超微结构研究，以充分表征 MN 和 MM 线粒体细胞病变的病理学特征。