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Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease

Ozawa, T ; Tanaka, M ; Ino, H ; Ohno, K ; Sano, T ; Wada, Y ; Yoneda, M ; Tanno, Y ; Miyatake, T ; Tanaka, T

Biochemical and biophysical research communications, 30 April 1991, Vol.176(2), pp.938-46 [Tạp chí có phản biện]

ISSN: 0006-291X ; PMID: 2025303 Version:1

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  • Nhan đề:
    Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease
  • Tác giả: Ozawa, T ; Tanaka, M ; Ino, H ; Ohno, K ; Sano, T ; Wada, Y ; Yoneda, M ; Tanno, Y ; Miyatake, T ; Tanaka, T
  • Chủ đề: Multigene Family ; Mutation ; DNA, Mitochondrial -- Chemistry ; Mitochondria, Muscle -- Pathology ; Parkinson Disease -- Genetics
  • Là 1 phần của: Biochemical and biophysical research communications, 30 April 1991, Vol.176(2), pp.938-46
  • Mô tả: The total sequence data for mitochondrial DNA (mtDNA) revealed distinct clustering of point mutations (pms) in mtDNA among one patient with myoclonus epilepsy with ragged-red fibers (MERRF), two patients with Parkinson's disease (PD), two patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), and one patient with fatal infantile cardiomyopathy (FICM). Among 33 to 62 pms found in each patients, sequentially diverged five clusters of pms were detected and designated as C-1 to C-5. C-1, consisted of fourteen pms, existed in the MERRF patient, C-1 and C-2 (nine pms) in one PD patient, C-1 to C-3 (seven pms) in another PD patient, C-1 to C-4 (one pm) in one MELAS patient and C-1 to C-5 (three pms) in another MELAS patient and the FICM patient. From these clustering of pms, a phylogenetic tree of mitochondrial encephalomyopathies (ME) was constructed. This tree clearly indicated that the ME and PD patients are members of the same gene family,...
  • Ngôn ngữ: English
  • Số nhận dạng: ISSN: 0006-291X ; PMID: 2025303 Version:1

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