Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.
about
Infant-onset progressive myoclonus epilepsyA novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13.Epilepsy in a mitochondrial disorder.Mitochondrial myopathies and encephalomyopathies.CREB activation induced by mitochondrial dysfunction is a new signaling pathway that impairs cell proliferation.Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndromeThe mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndromeHeterogeneous presentation in A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene.Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.Mitochondrial DNA content, an inaccurate biomarker of mitochondrial alteration in human immunodeficiency virus-related lipodystrophy.Present and future therapeutic strategies in non-alcoholic fatty liver disease.Abnormal muscle and skin mitochondria in family with myoclonus, ataxia, and deafness (May and White syndrome)Organic acidurias: a review. Part 1.Gastrointestinal manifestations of mitochondrial disorders: a systematic review.Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF)."Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
P2860
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P2860
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics.
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh
1989年學術文章
@zh-hant
name
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@en
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@nl
type
label
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@en
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@nl
prefLabel
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@en
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@nl
P2093
P2860
P356
P1433
P1476
Myoclonic epilepsy and ragged- ...... istry, and molecular genetics.
@en
P2093
Mendell JR
Nakahara K
P2860
P356
10.1002/ANA.410260104
P577
1989-07-01T00:00:00Z