粒線體腦肌病是一種由粒線體的代謝缺陷脫引起的腦肌病,屬於粒線體疾病。此病由Luft於1962年首次採用改良戈莫理氏染色法(Gömöri trichrome stain,MGT)發現。[1]在活體檢查中,患者的肌肉組織中帶有破碎紅纖維(或不整紅邊纖維,raggedredfiber,RRF)。這種粒線體疾病也可同時累及中樞神經系統引起多種粒線體肌病。
粒線體肌病根據臨床不同症候群可分為幾類:[2][3]
- ^ 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. Sep 1962, 41 (9): 1776–1804. PMID 14467237. doi:10.1172/JCI104637 (英語). [永久失效連結]
- ^ 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. Feb 2004, 61 (2): 269–272. PMID 14967777. doi:10.1001/archneur.61.2.269 (英語). [永久失效連結]
- ^ 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. Mar 2005, 62 (3): 473–476. PMID 15767514. doi:10.1001/archneur.62.3.473 (英語). [永久失效連結]
- ^ 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. Aug 1993, 56 (8): 900–905. PMC 1015147 . PMID 8350109. doi:10.1136/jnnp.56.8.900 (英語).
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