Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
about
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex IThe maintenance of mitochondrial DNA integrity--critical analysis and updateJuvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorderDeletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).The neurodegenerative mitochondriopathies.Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expressionMutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegiaMaternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxiaGerm-line deletions of mtDNA in mitochondrial myopathyPriming DNA replication from triple helix oligonucleotides: possible threestranded DNA in DNA polymerases.Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia.The development of mitochondrial medicine.Detection of a specific mitochondrial DNA deletion in tissues of older humans.Mitochondrial tRNA 3' end metabolism and human disease.Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.Rapid segregation of heteroplasmic bovine mitochondria.Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome.Deletion-mutant mtDNA increases in somatic tissues but decreases in female germ cells with age.Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.Mitochondria and energetic depression in cell pathophysiologyRecombination by sequence repeats with formation of suppressive or residual mitochondrial DNA in Neurospora.Human mitochondrial DNA: roles of inherited and somatic mutations.Mitochondrial DNA in sickness and in health.Mitochondrial genome expression in a mutant strain of D. subobscura, an animal model for large scale mtDNA deletion.Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies.Mitochondrial genome: defects, disease, and evolution.Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences.Tissue specific distribution of the 3243A->G mtDNA mutation.
P2860
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P2860
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
description
1988 nî lūn-bûn
@nan
1988 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@ast
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@en
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@nl
type
label
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@ast
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@en
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@nl
prefLabel
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@ast
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@en
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@nl
P1433
P1476
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion
@en
P2093
P407
P577
1988-04-16T00:00:00Z