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名词信息
中 文 名:
线粒体肌病伴有细胞色素C缺乏
英 文 名:
mitochondrial myopathy with cytochrome C oxidase deficiency
中文又称:
中文曾称:
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所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
mitochondrial myopathy with cytochrome C oxidase deficiency
相关文献:
Cytochrome c oxidase deficiency.
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA.
Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025.
PMID:2175026
Cytochrome c oxidase deficiency.
Shoubridge EA.
Am J Med Genet. 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378.
PMID:11579424
Novel cytochrome c-oxidase deficiency and mitochondrial myopathy in non-syndromic cleft lip with or without palate.
Noor RAM, Shah NSM, Zin AAM, Sulaiman WAW.
Tissue Cell. 2025 Aug;95:102887. doi: 10.1016/j.tice.2025.102887. Epub 2025 Mar 26.
PMID:40187006
Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.
Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M.
Neuropediatrics. 2003 Dec;34(6):311-7. doi: 10.1055/s-2003-44670.
PMID:14681757
Cytochrome c oxidase deficiencies in the muscle of patients with inflammatory myopathies.
Chariot P, Ruet E, Authier FJ, Labes D, Poron F, Gherardi R.
Acta Neuropathol. 1996;91(5):530-6. doi: 10.1007/s004010050462.
PMID:8740235
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.
DiMauro S, Mendell JR, Sahenk Z, Bachman D, Scarpa A, Scofield RM, Reiner C.
Neurology. 1980 Aug;30(8):795-804. doi: 10.1212/wnl.30.8.795.
PMID:6251406
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M.
Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.
PMID:18771761
Cytochrome c oxidase deficiency in the muscle of patients with zidovudine myopathy is segmental and affects both mitochondrial DNA- and nuclear DNA-encoded subunits.
Yerroum M, Pham-Dang C, Authier FJ, Monnet I, Gherardi R, Chariot P.
Acta Neuropathol. 2000 Jul;100(1):82-6. doi: 10.1007/s004010051196.
PMID:10912924
Mitochondria and ageing.
Müller-Höcker J.
Brain Pathol. 1992 Apr;2(2):149-58. doi: 10.1111/j.1750-3639.1992.tb00683.x.
PMID:1341956
Neuropathologic aspects of cytochrome C oxidase deficiency.
Tanji K, Bonilla E.
Brain Pathol. 2000 Jul;10(3):422-30. doi: 10.1111/j.1750-3639.2000.tb00274.x.
PMID:10885661
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