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Volumn 143, Issue 1-2, 1996, Pages 41-45

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features

Author keywords

Autosomal dominant; Mitochondrial DNA; Multiple deletions; Neuropathy; Parkinsonism; Retinopathy

Indexed keywords

LEVODOPA;

EID: 0030297454     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(96)00032-9     Document Type: Article
Times cited : (52)

References (21)
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    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 643-648
    • Cormier, V.1    Rotig, A.2    Tardieu, M.3    Colonna, M.4    Saudubray, J.M.5    Munnich, A.6
  • 3
    • 0025666322 scopus 로고
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348:1990;651-653.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.I.1    Nonaka, I.2    Horai, S.3
  • 5
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt I.J., Harding A.E., Morgan Hughes J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan Hughes, J.A.3
  • 6
    • 0024798264 scopus 로고
    • Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
    • Holt I.J., Harding A.E., Cooper J.M., Schapira A.H.V., Toscano A., Clark J.B., Morgan-Hughes J.A. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neurol. 26:1989;699-708.
    • (1989) Ann. Neurol. , vol.26 , pp. 699-708
    • Holt, I.J.1    Harding, A.E.2    Cooper, J.M.3    Schapira, A.H.V.4    Toscano, A.5    Clark, J.B.6    Morgan-Hughes, J.A.7
  • 10
    • 0025322251 scopus 로고
    • Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy
    • Otsuka M., Niijima K., Mizuno Y., Yoshida M., Kagawa Y., Ohta S. Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy. Biochem. Biophys. Res. Commun. 167:1990;680-685.
    • (1990) Biochem. Biophys. Res. Commun. , vol.167 , pp. 680-685
    • Otsuka, M.1    Niijima, K.2    Mizuno, Y.3    Yoshida, M.4    Kagawa, Y.5    Ohta, S.6
  • 16
    • 0026637067 scopus 로고
    • Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
    • Suomalainen A., Majander A., Haltia M., Somer H., Lönnqvist J., Savontaus M.L., Peltonen L. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J. Clin. Invest. 90:1992;61-66.
    • (1992) J. Clin. Invest. , vol.90 , pp. 61-66
    • Suomalainen, A.1    Majander, A.2    Haltia, M.3    Somer, H.4    Lönnqvist, J.5    Savontaus, M.L.6    Peltonen, L.7
  • 17
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    • Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
    • Suomalainen A., Paetau A., Leinonen H., Majander A., Peltonen L., Somer H. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet. 340:1992;1319-1320.
    • (1992) Lancet , vol.340 , pp. 1319-1320
    • Suomalainen, A.1    Paetau, A.2    Leinonen, H.3    Majander, A.4    Peltonen, L.5    Somer, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.