Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, S-416 85 Göteborg, Sweden.
Semin Fetal Neonatal Med. 2011 Aug;16(4):229-35. doi: 10.1016/j.siny.2011.04.001. Epub 2011 May 18.
During the last decade rapid development has occurred in defining nuclear gene mutations causing mitochondrial disease. Some of these newly defined gene mutations cause neonatal or early infantile onset of disease, often associated with severe progressive encephalomyopathy combined with other multi-organ involvement such as cardiomyopathy or hepatopathy and with early death. Findings suggesting myopathy in neonates are hypotonia, muscle weakness and wasting, and arthrogryposis. We aim to describe the clinical findings of patients with mitochondrial disease presenting with muscular manifestations in the neonatal period or in early infancy and in whom the genetic defect has been characterized. The majority of patients with neonatal onset of mitochondrial disease have mutations in nuclear genes causing dysfunction of the mitochondrial respiratory chain, leading to defective oxidative phosphorylation.
在过去的十年中，人们在确定导致线粒体疾病的核基因突变方面取得了快速进展。其中一些新定义的基因突变导致新生儿或婴儿早期发病，常伴有严重的进行性脑肌病，伴有其他多器官受累，如心肌病或肝病变，并伴有早期死亡。提示新生儿肌病的表现为肌张力低下、肌无力和肌肉萎缩，以及关节挛缩。我们旨在描述以肌肉表现为特征的新生儿期或婴儿早期出现线粒体疾病的患者的临床发现，并且已经对其遗传缺陷进行了特征描述。大多数患有新生儿期线粒体疾病的患者都存在核基因突变，导致线粒体呼吸链功能障碍，从而导致氧化磷酸化缺陷。
