线粒体脑肌病

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线粒体脑肌病
分類系統及外部資源
ICD-9 277.87
MeSH D017237

线粒体脑肌病是一种由线粒体代谢缺陷脱引起的脑肌病,属于线粒体疾病。此病由Luft于1962年首次采用改良戈莫理氏染色法(Gömöri trichrome stain,MGT)发现。[1]活体检查中,患者肌肉组织中带有破碎红纤维(或不整红边纤维,raggedredfiber,RRF)。这种线粒体疾病也可同时累及中枢神经系统引起多种线粒体肌病

分型[编辑]

线粒体肌病根据临床不同综合征可分为几类:[2][3]

参考文献[编辑]

  1. ^ Rolf Luft, Denis Ikkos, Genaro Palmieri, Lars Ernster, and Björn Afzelius. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. Journal of Clinical Investigation. 1962年Sep月, 41 (9): 1776–1804. doi:10.1172/JCI104637. PMID 14467237 (英文). 
  2. ^ Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Archives of Neurology. 2004年Feb月, 61 (2): 269–272. doi:10.1001/archneur.61.2.269. PMID 14967777 (英文). 
  3. ^ Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Archives of Neurology. 2005年Mar月, 62 (3): 473–476. doi:10.1001/archneur.62.3.473. PMID 15767514 (英文). 
  4. ^ D Crimmins, J G Morris, G L Walker, C M Sue, E Byrne, S Stevens, B Jean-Francis, C Yiannikas, and R Pamphlett. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. Journal of Neurology, Neurosurgery & Psychiatry. 1993年Aug月, 56 (8): 900–905. doi:10.1136/jnnp.56.8.900. PMC 1015147. PMID 8350109 (英文). 

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