A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.
about
How clonal are human mitochondria?Maternal ancestry and population history from whole mitochondrial genomesTwo novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Nonneutral mitochondrial DNA variation in humans and chimpanzeesInsights into the pathogenesis and treatment of cancer from inborn errors of metabolism.Molecular background of progressive myoclonus epilepsy.Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndromeRespiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles.Mitochondrial disease in childhood: mtDNA encoded.Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.The sequence of human mtDNA: the question of errors versus polymorphisms.
P2860
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P2860
A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers.
description
1990 nî lūn-bûn
@nan
1990 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
A common mitochondrial DNA mutation in the t-RNA
@nl
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@ast
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@en
type
label
A common mitochondrial DNA mutation in the t-RNA
@nl
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@ast
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@en
prefLabel
A common mitochondrial DNA mutation in the t-RNA
@nl
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@ast
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@en
P2093
P1476
A common mitochondrial DNA mut ...... ciated with ragged-red fibers.
@en
P2093
P304
P577
1990-08-01T00:00:00Z