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A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up.台湾地区1例婴儿可逆性细胞色素C氧化酶缺乏性肌病：4年随访
Case Rep Med. 2025 Feb 18;2025:1823517. doi: 10.1155/carm/1823517. eCollection 2025.
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A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive.一例以肌张力减退、高氨血症和发育不良为表现的可逆性婴儿呼吸链缺陷病例。
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[Benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiency].[可逆性细胞色素c氧化酶缺乏所致良性婴儿线粒体肌病]
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Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency.由可逆性细胞色素c氧化酶缺乏引起的良性婴儿线粒体肌病。
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Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.可逆性婴儿呼吸链缺陷是一种独特的、遗传异质性的线粒体疾病。
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Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.婴儿期致死性与良性细胞色素c氧化酶缺乏性肌病的鉴别诊断：一种免疫组织化学方法。
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本文引用的文献

1
Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T>C mt-tRNAGlu mutation.表现出由m.14674 T>C线粒体tRNAGlu突变导致的致命性线粒体肌病临床病理特征的婴儿的良性可逆病程。
QJM. 2013 Oct;106(10):953-4. doi: 10.1093/qjmed/hct151. Epub 2013 Jul 10.
2
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.可逆性婴儿呼吸链缺陷是一种独特的、遗传异质性的线粒体疾病。
J Med Genet. 2011 Oct;48(10):660-668. doi: 10.1136/jmg.2011.089995.
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Reversible infantile respiratory chain deficiency: a clinical and molecular study.可复性婴儿呼吸链缺陷：临床与分子研究。
Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111.
4
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.婴儿期可逆细胞色素 c 氧化酶缺乏性肌病的分子基础。
Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31.
5
Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy.肌肉线粒体-脂质-糖原（MLG）病。一种形态学上进行性发展的先天性肌病。
Arch Neurol. 1973 Sep;29(3):162-9. doi: 10.1001/archneur.1973.00490270044007.
6
Benign reversible muscle cytochrome c oxidase deficiency: a second case.
Neurology. 1987 Jan;37(1):64-7. doi: 10.1212/wnl.37.1.64.
7
Cytochrome c oxidase deficiency.细胞色素c氧化酶缺乏症
Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025.
8
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency.伴有细胞色素c氧化酶缺乏的可逆性线粒体肌病
Arch Dis Child. 1992 Aug;67(8):1033-5. doi: 10.1136/adc.67.8.1033.

台湾地区1例婴儿可逆性细胞色素C氧化酶缺乏性肌病：4年随访

A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4-Year Follow-Up.

作者信息

Ma Yu-Ting, Lin Ju-Li, Lai Ming-Wei, Chou I-Jun, Hwang Mao-Sheng

机构信息

Department of Pediatrics, Division of Genetics and Pediatric Endocrinology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Department of Pediatrics, Division of Pediatric Gastroenterology, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.

出版信息

Case Rep Med. 2025 Feb 18;2025:1823517. doi: 10.1155/carm/1823517. eCollection 2025.

DOI:10.1155/carm/1823517
PMID:40008317
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11858699/
Abstract

Infantile reversible cytochrome c oxidase (COX) deficiency myopathy is a mitochondrial rare disease with onset age of first day to three months with symptoms of generalized muscle weakness and severe hypotonia. Despite its initial serious conditions, the symptoms may improve spontaneously later in their life, with the so-called "benign" myopathy accordingly. This benign mitochondrial myopathy might be improved in their later life, which is different from most mitochondrial myopathies with progression by age. Therefore, we depicted the rare case of her clinical course during our medical practice, anticipating to provide more information of this rare disease.

摘要

婴儿期可逆性细胞色素c氧化酶（COX）缺乏性肌病是一种线粒体罕见病，发病年龄在出生首日至3个月，症状为全身肌无力和严重肌张力减退。尽管起病时病情严重，但症状在其后期生活中可能会自发改善，从而出现所谓的“良性”肌病。这种良性线粒体肌病在其后期生活中可能会改善，这与大多数随年龄进展的线粒体肌病不同。因此，我们描述了在我们医疗实践中该病例的罕见临床病程，期望能提供关于这种罕见疾病的更多信息。