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名词信息
中 文 名:
线粒体肌病伴有复合体I缺乏
英 文 名:
mitochondrial myopathy with complex I deficiency
中文又称:
中文曾称:
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神经内科
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疾病诊断名词
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Pubmed相关的文献
mitochondrial myopathy with complex I deficiency
相关文献:
Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X.
Genes Genomics. 2022 Jun;44(6):691-698. doi: 10.1007/s13258-022-01260-x. Epub 2022 Apr 28.
PMID:35482246
De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
Lou X, Zhou Y, Liu Z, Xie Y, Zhang L, Zhao S, Gong S, Zhuo X, Wang J, Dai L, Ren X, Tong X, Jiang L, Fang H, Fang F, Lyu J.
Gene. 2023 Apr 15;860:147229. doi: 10.1016/j.gene.2023.147229. Epub 2023 Jan 27.
PMID:36717040
Mitochondrial complex I-linked disease.
Rodenburg RJ.
Biochim Biophys Acta. 2016 Jul;1857(7):938-45. doi: 10.1016/j.bbabio.2016.02.012. Epub 2016 Feb 22.
PMID:26906428
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Palin EJ, Paetau A, Suomalainen A.
Brain. 2013 Aug;136(Pt 8):2379-92. doi: 10.1093/brain/awt160. Epub 2013 Jun 27.
PMID:23811324
Mitochondrial myopathy (complex I deficiency) associated with chronic intestinal pseudo-obstruction.
Wedel T, Tafazzoli K, Söllner S, Krammer HJ, Aring C, Holschneider AM.
Eur J Pediatr Surg. 2003 Jun;13(3):201-5. doi: 10.1055/s-2003-41263.
PMID:12939706
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency.
Pula S, Urankar K, Norman A, Pierre G, Langton-Hewer S, Selby V, Mason F, Vijayakumar K, McFarland R, Taylor RW, Majumdar A.
Neuromuscul Disord. 2020 Feb;30(2):159-164. doi: 10.1016/j.nmd.2019.11.014. Epub 2019 Dec 1.
PMID:32005493
Myopathy reversion in mice after restauration of mitochondrial complex I.
Pereira CV, Peralta S, Arguello T, Bacman SR, Diaz F, Moraes CT.
EMBO Mol Med. 2020 Feb 7;12(2):e10674. doi: 10.15252/emmm.201910674. Epub 2020 Jan 9.
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Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids.
Dunbar DR, Moonie PA, Zeviani M, Holt IJ.
Hum Mol Genet. 1996 Jan;5(1):123-29. doi: 10.1093/hmg/5.1.123.
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Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy.
Kruse SE, Watt WC, Marcinek DJ, Kapur RP, Schenkman KA, Palmiter RD.
Cell Metab. 2008 Apr;7(4):312-20. doi: 10.1016/j.cmet.2008.02.004.
PMID:18396137
Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy.
Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Cochaud C, Richelme C, Sacconi S, Paquis-Flucklinger V.
Muscle Nerve. 2017 Jun;55(6):919-922. doi: 10.1002/mus.25262. Epub 2017 Mar 26.
PMID:27438479
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