Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation

Acta Neurologica Scandinavica

Volumn 116, Issue 1, 2007, Pages 1-14

  Finsterer, J ^a,b  

^a KRANKENANSTALT RUDOLFSTIFTUNG   (Austria)

^b NONE   (Austria)

Author keywords

Genetics; Genotype; Metabolic myopathy; Mitochondrial; Mutation; Phenotype; Ribonucleic acid

Indexed keywords

ADENINE NUCLEOTIDE; ARGININE; DICHLOROACETIC ACID; GUANINE NUCLEOTIDE; IDEBENONE; LEUCINE; MITOCHONDRIAL DNA; TRANSFER RNA; UBIDECARENONE;

AMINO ACID SUBSTITUTION; AUTOPSY; CARDIOMYOPATHY; CEREBROSPINAL FLUID ANALYSIS; CHROMOSOME SEGREGATION; COMPUTER ASSISTED TOMOGRAPHY; DIAGNOSTIC APPROACH ROUTE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; EXTERNAL OPHTHALMOPLEGIA; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROPLASMY; HUMAN; KEARNS SAYRE SYNDROME; LEIGH DISEASE; MATERNALLY INHERITED DIABETES AND DEAFNESS; MELAS SYNDROME; MITOCHONDRIAL GENE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; PHENOTYPIC VARIATION; REVIEW; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

GENES, MITOCHONDRIAL; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; PHENOTYPE; RNA, TRANSFER, LEU;

EID: 34250833548     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2007.00836.x     Document Type: Review

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