粒線體腦肌病

粒線體腦肌病是一種由粒線體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]活體檢查中,患者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

粒線體腦肌病
類型粒線體肌病腦病變
分類和外部資源
醫學專科神經學、​風濕病學、​內分泌學
ICD-9-CM277.87
MeSHD017237
[編輯此條目的維基數據]

分型

編輯

粒線體肌病根據臨床不同症候群可分為幾類:[2][3]

參考文獻

編輯
  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. Sep 1962, 41 (9): 1776–1804. PMID 14467237. doi:10.1172/JCI104637 (英語). [永久失效連結]
  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. Feb 2004, 61 (2): 269–272. PMID 14967777. doi:10.1001/archneur.61.2.269 (英語). [永久失效連結]
  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. Mar 2005, 62 (3): 473–476. PMID 15767514. doi:10.1001/archneur.62.3.473 (英語). [永久失效連結]
  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. Aug 1993, 56 (8): 900–905. PMC 1015147 . PMID 8350109. doi:10.1136/jnnp.56.8.900 (英語). 

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