메뉴 건너뛰기




Volumn 10, Issue 5, 2010, Pages 567-572

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C

Author keywords

Brainstem; Complex V; Leigh syndrome; Magnetic resonance imaging

Indexed keywords

CYTOSINE; MITOCHONDRIAL DNA; THYMINE;

EID: 77955424531     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.05.006     Document Type: Article
Times cited : (15)

References (20)
  • 1
    • 27744530170 scopus 로고    scopus 로고
    • Simultaneous detection and quantification of mitochondrial DNA deletions(s), depletion, and over-replication in patients with mitochondrial disease
    • Bai R.K., Wong L.C. Simultaneous detection and quantification of mitochondrial DNA deletions(s), depletion, and over-replication in patients with mitochondrial disease. J. Mol. Diagn. 2005, 7:613-622.
    • (2005) J. Mol. Diagn. , vol.7 , pp. 613-622
    • Bai, R.K.1    Wong, L.C.2
  • 2
    • 0027228506 scopus 로고
    • Mitochondrial disorders: analysis of their clinical and imaging characteristics
    • Barkovich A.J., Good W., Koch T.K., Berg B.O. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am. J. Neuroradiol. 1993, 14:1119-1137.
    • (1993) AJNR Am. J. Neuroradiol. , vol.14 , pp. 1119-1137
    • Barkovich, A.J.1    Good, W.2    Koch, T.K.3    Berg, B.O.4
  • 7
    • 52049087584 scopus 로고    scopus 로고
    • Leigh and Leigh-like syndrome in children and adults
    • Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediat. Neurol. 2008, 39:223-235.
    • (2008) Pediat. Neurol. , vol.39 , pp. 223-235
    • Finsterer, J.1
  • 8
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt I.J., Harding A.R., Petty R.K., Morgan-Hughes J.A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet. 1990, 46:428-433.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.R.2    Petty, R.K.3    Morgan-Hughes, J.A.4
  • 9
    • 0000376151 scopus 로고
    • Subacute necrotizing encephalomyelopathy in an infant
    • Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J. Neurochem. 1951, 14:216-221.
    • (1951) J. Neurochem. , vol.14 , pp. 216-221
    • Leigh, D.1
  • 10
    • 0032486118 scopus 로고    scopus 로고
    • Yield of mtDNA mutation analysis in 2000 patients
    • Liang M.H., Wong L.-C. Yield of mtDNA mutation analysis in 2000 patients. Am. J. Med. Genet. 1998, 77:395-4000.
    • (1998) Am. J. Med. Genet. , vol.77 , pp. 395-4000
    • Liang, M.H.1    Wong, L.-C.2
  • 13


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.