Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
about
When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Endocrine dysfunction in Kearns-Sayre syndromeThe DNA laboratory and neurological practice.Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.Mitochondrial myopathies and encephalomyopathies.Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.mtDNA Mutations and Their Role in Aging, Diseases and Forensic SciencesA new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).Prenatal diagnosis of mitochondrial DNA8993 T----G disease.Defects of mitochondrial DNA.Clinical and laboratory findings in referrals for mitochondrial DNA analysis.PCR in the analysis of mutations in mitochondrial DNA.In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes.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.Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy.Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescenceClinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?Leigh syndrome: One disorder, more than 75 monogenic causes.Prevalence and progression of mitochondrial diseases: a study of 50 patients.Neuropathy associated with mitochondrial disorders.Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis.Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.Biochemical and genetic studies in a family with mitochondrial myopathy.Optic neuropathy associated with mitochondrial tRNA[Leu(UUR)] A3243G mutation.Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA.Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.
P2860
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P2860
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
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 encephalopathies: molecular genetic diagnosis from blood samples.
@en
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
@nl
type
label
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
@en
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
@nl
prefLabel
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
@en
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
@nl
P2093
P1433
P1476
Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples.
@en
P2093
A E Harding
J A Morgan-Hughes
M Brockington
M G Sweeney
S R Hammans
P304
P356
10.1016/0140-6736(91)92981-7
P407
P577
1991-06-01T00:00:00Z