Munnich A, Rötig A, Chretien D, Saudubray J M, Cormier V, Rustin P
Department of Genetics, INSERM U 393, Hôpital des Enfants Malades, Paris, France.
Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711.
Respiratory chain deficiencies have long been regarded as neuromuscular diseases. In fact, oxidative phosphorylation, i.e., ATP synthesis by the respiratory chain not only occurs in the neuromuscular system, indeed, a number of non-neuromuscular organs and tissues are dependent upon mitochondrial energy supply. For this reason, a respiratory chain deficiency can theoretically give rise to any symptom, in any organ or tissue, at any age with any mode of inheritance, due to the twofold genetic origin of respiratory enzymes (nuclear DNA and mitochondrial DNA).
呼吸链缺陷长期以来一直被视为神经肌肉疾病。事实上，氧化磷酸化，即通过呼吸链合成ATP，不仅发生在神经肌肉系统，实际上，许多非神经肌肉器官和组织都依赖线粒体提供能量。因此，由于呼吸酶的双重遗传起源（核DNA和线粒体DNA），呼吸链缺陷理论上可以在任何年龄、以任何遗传方式在任何器官或组织中引发任何症状。
