Audiologic and genetic features of the A3243G mtDNA mutation

scientific article published on 11 March 2013

Audiologic and genetic features of the A3243G mtDNA mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1089/GTMB.2012.0403
P932PMC publication ID3634140
P698PubMed publication ID23477312

P2093author name stringWendy Liu
Denise Yan
Lilin Du
Richard J Vivero
Xiaomei Ouyang
Xue Zhong Liu
Yeunjung Grant Kim
P2860cites workMitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current conceptsQ28251780
Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutationQ28307360
Mitochondrial defects and hearing lossQ34160112
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosidesQ34384272
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.Q34386522
Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairmentQ35437142
The MELAS syndrome. Review of the literature: the role of the otologistQ35666517
Mitochondrial rRNA and tRNA and hearing functionQ36697530
Oxidative phosphorylation diseases. Disorders of two genomesQ37936240
Molecular pathogenetic mechanism of maternally inherited deafnessQ40559254
Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing lossQ40690912
Molecular genetic aspects of human mitochondrial disordersQ41000631
Cochlear origin of hearing loss in MELAS syndromeQ41722897
Audiological and genetic features of the mtDNA mutationsQ41908652
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.Q42929025
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutationQ43518868
Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmyQ44028130
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessQ46157086
Hearing loss in mitochondrial disordersQ47777766
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypesQ48596460
Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA.Q48745870
Large-scale screening of mitochondrial DNA mutations among Iranian patients with prelingual nonsyndromic hearing impairment.Q50432530
Population prevalence of the MELAS A3243G mutation.Q50459050
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics.Q50490100
The spectrum of hearing loss due to mitochondrial DNA defects.Q50498619
Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness.Q50505206
Auditory findings in patients with maternally inherited diabetes and deafness harboring a point mutation in the mitochondrial transfer RNA(Leu) (UUR) gene.Q50517377
Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafnessQ50537181
Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon agingQ57420566
Increased risk of stroke in patients with the A12308G polymorphism in mitochondriaQ73365367
The epidemiology of pathogenic mitochondrial DNA mutationsQ74159368
Human mitochondrial diseases: answering questions and questioning answersQ77403432
P4510describes a project that usesImageJQ1659584
P433issue5
P304page(s)383-389
P577publication date2013-03-11
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleAudiologic and genetic features of the A3243G mtDNA mutation
P478volume17

Reverse relations

cites work (P2860)
Q92196983Audiological and Vestibular Findings in Subjects with MELAS Syndrome
Q94464181Response: Commentary: Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study

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