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Volumn 51, Issue 5, 1998, Pages 1447-1450

Expanding the phenotype of the 8344 transfer RNA(lysine) mitochondrial DNA mutation

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; LYSINE; MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 0031796949     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.5.1447     Document Type: Article
Times cited : (55)

References (10)
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    • Hereditary ataxia, photomyoclonus, skeletal deformities and lipoma
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    • Ekbom, K.1
  • 4
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    • Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
    • Howell N, Kubacka I, Smith R, Ferman F, Parks JK, Parker WD. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology 1996;46:219-222.
    • (1996) Neurology , vol.46 , pp. 219-222
    • Howell, N.1    Kubacka, I.2    Smith, R.3    Ferman, F.4    Parks, J.K.5    Parker, W.D.6
  • 5
    • 0024746638 scopus 로고
    • Preferential amplification and molecular characterization of junction sequences of pathogenetic deletions in human mitochondrial DNA
    • Johns DR, Hurko O. Preferential amplification and molecular characterization of junction sequences of pathogenetic deletions in human mitochondrial DNA. Genomics 1989;5:623-628.
    • (1989) Genomics , vol.5 , pp. 623-628
    • Johns, D.R.1    Hurko, O.2
  • 6
    • 0030068024 scopus 로고    scopus 로고
    • Molecular genetics of human blood pressure variation
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  • 8
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    • Multiple symmetric lipomatosis: Abnormalities in complex IV and multiple deletions in mitochondrial DNA
    • Klopstock T, Naumann M, Schalke B, et al. Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. Neurology 1994;44:862-866.
    • (1994) Neurology , vol.44 , pp. 862-866
    • Klopstock, T.1    Naumann, M.2    Schalke, B.3
  • 9
    • 0027508148 scopus 로고
    • Multiple symmetric lipomas with high levels of mtDNA with the tRNA lys A mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged red fibers syndrome
    • Holme E, Larsson MG, Aldfors A, et al. Multiple symmetric lipomas with high levels of mtDNA with the tRNA lys A mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged red fibers syndrome. Am J Hum Genet 1993;52:551-556.
    • (1993) Am J Hum Genet , vol.52 , pp. 551-556
    • Holme, E.1    Larsson, M.G.2    Aldfors, A.3
  • 10
    • 0030936708 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A diabetic subtype associated with a mutation in mitochondrial DNA
    • Maassen JA, van den Ouweland JM, 't Hart LM, Lemkes HH. Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. Hormone Metab Res 1997;29:50-55.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.