about
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundRecessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAAbnormal retinal thickening is a common feature among patients with ARSACS-related phenotypesMutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenanceEXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis.Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridizationClinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTmetabolic profiling of Parkinson's disease and mild cognitive impairment.Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyMutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyANO10 mutations cause ataxia and coenzyme Q₁₀ deficiencySPG7 mutations are a common cause of undiagnosed ataxiaNon-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.Exome sequencing in undiagnosed inherited and sporadic ataxiasEfficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in HumansPhenotypic variability of TRPV4 related neuropathies.Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering.Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneSCP2 mutations and neurodegeneration with brain iron accumulation.OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckReduced mitochondrial DNA copy number is a biomarker of Parkinson's disease.Somatic mtDNA variation is an important component of Parkinson's disease.Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodNuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.Phenotypic convergence of Menkes and Wilson disease.Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.Genetic heterogeneity of motor neuropathiesAltered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease.De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome
P50
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P50
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