A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
about
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA diseaseMitochondrial disease in adults: what's old and what's new?Biochemical diagnosis of mitochondrial disordersHistorical perspective on mitochondrial medicinePathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variantsSensory ataxic neuropathy in golden retriever dogs is caused by a deletion in the mitochondrial tRNATyr gene.The in-depth evaluation of suspected mitochondrial diseaseTransfer RNA and human diseaseClinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTMitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Mitochondrial transfer RNAMet 4435A>G mutation is associated with maternally inherited hypertension in a Chinese pedigree.Failures in mitochondrial tRNAMet and tRNAGln metabolism caused by the novel 4401A>G mutation are involved in essential hypertension in a Han Chinese Family.The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesPathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.Gene therapy for the treatment of mitochondrial DNA disorders.Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.Disorders of mitochondrial protein synthesis.Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome.Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutationMitochondrial disease in childhood: mtDNA encoded.Coronary heart disease is associated with a mutation in mitochondrial tRNA.Evidence for nuclear modifier gene in mitochondrial cardiomyopathy.Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.Mitochondrial tRNA variants in Chinese subjects with coronary heart diseaseTherapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.Pathogenesis and treatment of mitochondrial myopathies: recent advances.Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course.Mitochondria: impaired mitochondrial translation in human diseaseFidelity of the human mitochondrial DNA polymerase.Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
P2860
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P2860
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@en
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@nl
type
label
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@en
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@nl
prefLabel
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@en
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@nl
P2093
P1476
A homoplasmic mitochondrial tr ...... d hypertrophic cardiomyopathy.
@en
P2093
Carla Giordano
Carlo Casali
Christine M Hayes
Douglass M Turnbull
Filippo M Santorelli
Giulia d'Amati
Helen Leonard
Mercy M Davidson
Michio Hirano
P304
P356
10.1016/S0735-1097(03)00300-0
P407
P577
2003-05-01T00:00:00Z