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Volumn 50, Issue 6, 1998, Pages 1875-1878

A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL RNA; TRANSFER RNA;

EID: 0031801084     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.6.1875     Document Type: Article
Times cited : (61)

References (10)
  • 1
    • 78651126508 scopus 로고
    • 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
    • Luft R, Ikkos D, Palmieri G, Ernster L, Afzelius B. 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. J Clin Invest 1962;41:1776-1804.
    • (1962) J Clin Invest , vol.41 , pp. 1776-1804
    • Luft, R.1    Ikkos, D.2    Palmieri, G.3    Ernster, L.4    Afzelius, B.5
  • 2
    • 0023883150 scopus 로고
    • Deletions of mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 4
    • 0029909222 scopus 로고    scopus 로고
    • Exercise fuel mobilization in mitochondrial myopathy: A metabolic dilemma
    • Vissing J, Galbo H, Haller RG. Exercise fuel mobilization in mitochondrial myopathy: a metabolic dilemma. Ann Neurol 1996;40:655-662.
    • (1996) Ann Neurol , vol.40 , pp. 655-662
    • Vissing, J.1    Galbo, H.2    Haller, R.G.3
  • 6
    • 0031030666 scopus 로고    scopus 로고
    • Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy
    • Schwartz M, Sørensen N, Hansen FJ, et al. Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy. Hum Mol Genet 1997;6:99-104.
    • (1997) Hum Mol Genet , vol.6 , pp. 99-104
    • Schwartz, M.1    Sørensen, N.2    Hansen, F.J.3
  • 7
    • 0026718556 scopus 로고
    • The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
    • Moraes CT, Ricci E, Bonilla E, DiMauro S, Schon EA. The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949.
    • (1992) Am J Hum Genet , vol.50 , pp. 934-949
    • Moraes, C.T.1    Ricci, E.2    Bonilla, E.3    DiMauro, S.4    Schon, E.A.5
  • 9
    • 0042845125 scopus 로고
    • Center for Molecular Medicine Emory University, Atlanta, GA
    • MITOMAP: Human Mitochondrial Genome Database. Center for Molecular Medicine Emory University, Atlanta, GA. USA World Wide Web (http://www.gen.emory.edu/mitomap.html), 1995.
    • (1995) MITOMAP: Human Mitochondrial Genome Database
  • 10
    • 0029012561 scopus 로고
    • Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions
    • Moraes CT, Sciacco M, Ricci E, et al. Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions. Muscle Nerve 1995;3:S150-S153.
    • (1995) Muscle Nerve , vol.3
    • Moraes, C.T.1    Sciacco, M.2    Ricci, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.