Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.
about
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenanceMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceDefects in mitochondrial DNA replication and human diseaseMPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.Mitochondrial Diseases as Model of Neurodegeneration.Retrospective natural history of thymidine kinase 2 deficiency.Mitochondrial Depletion Syndromes in Children and AdultsNovel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency
P2860
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P2860
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
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2008年學術文章
@zh-hant
name
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@en
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@nl
type
label
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@en
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@nl
prefLabel
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@en
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@nl
P2093
P1476
Novel mutations in the TK2 gen ...... ndrial DNA depletion myopathy.
@en
P2093
Douglass M Turnbull
Gavin Hudson
Imelda Hughes
John Walter
Julie L Gardner
Langping He
Robert W Taylor
P304
P356
10.1016/J.NMD.2008.04.014
P577
2008-05-27T00:00:00Z