Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
about
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IAcute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation.Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS.The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.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.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.MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.MtDNA T4216C variation in multiple sclerosis: a systematic review and meta-analysis.Pathophysiology of the MELAS 3243 transition mutation.Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)Mitochondrial DNA analysis in Leber's hereditary optic neuropathy.Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation.Headache and mitochondrial disorders.New nucleotide sequence data on the EMBL File Server
P2860
Q24669970-80284093-3418-4DB6-A97B-2DF56B96B44EQ33733491-51FE6D69-F2B1-4D62-8F56-069AD3F1548EQ34967855-62F6E688-BDB4-4A2F-978E-2138C6318C98Q35195556-E473E666-39B1-4728-A7E5-0FE39BD1EE82Q36650913-F5A7A230-5648-4987-9423-24EA12BDC112Q36811500-10709588-D46D-4AD2-9B08-02DCB099369FQ36997897-55CBEAA3-55EF-4835-8639-8A83A6816F83Q37299771-7957ABA2-5145-487A-AB04-ECAE0A8F5F72Q37311405-68E373B3-D0C9-4640-98AE-659BB2DE2894Q38908404-BC0B0349-1F83-432F-ACE5-0404F35F3DE7Q41085713-C09BF481-1AF9-4EA1-A15D-E5B2382B0BA0Q43144823-6D37C204-D308-4081-9AA6-5DA10C361C27Q44259611-DF03D76A-590C-4861-B974-C54B7B103B96Q48686462-895E7D41-AE07-40CF-9B9F-43C91F4C7FFDQ48690187-81BD9FE7-4003-449A-AF3E-9196787299CDQ50649785-324A078B-47A0-4FAF-83CF-9B05B5E796D5Q56899514-1EA1C21C-32A3-4295-9C8A-5CC7447A0FDD
P2860
Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
@zh
1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh-hant
name
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@en
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@nl
type
label
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@en
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@nl
prefLabel
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@en
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@nl
P2093
P1476
Mitochondrial DNA mutations in ...... stroke-like episodes (MELAS).
@en
P2093
M Kobayashi
T Ohbayashi
P304
P356
10.1016/0006-291X(91)91497-Z
P407
P50
P577
1991-01-01T00:00:00Z