about
Mitochondrial tRNA mutations and diseaseDefective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAA novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegiaPathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceMTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutationsMitochondrial DNA defects and selective extraocular muscle involvement in CPEO.Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.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.Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.Prevalence of mitochondrial DNA disease in adults.Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.Sensory neuronopathy in patients harbouring recessive polymerase γ mutationsA recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneCytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.Mitochondrial pathology in progressive cerebellar ataxiaPrevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafnessMitochondrial DNA deletions in muscle satellite cells: implications for therapiesMitochondrial DNA mutations and human disease.NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment.Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.Resistance training in patients with single, large-scale deletions of mitochondrial DNA.
P50
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P50
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Emma L. Blakely
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Emma L. Blakely
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