A novel mitochondrial tRNA arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 571-573

  Roos, Sara ^a   Darin, Niklas ^b   Kollberg, Gittan ^a   Gronlund, Marita Andersson ^c   Tulinius, Mar ^b   Holme, Elisabeth ^a   Moslemi, Ali Reza ^a   Oldfors, Anders ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b SAHLGRENSKA ACADEMY AT UNIVERSITY OF GOTHENBURG   (Sweden)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

Mitochondrial diseases; MtDNA; PCR RFLP; Retinal dystrophy

Indexed keywords

ALBUMIN; CREATININE; ETIRACETAM; MITOCHONDRIAL DNA; TRANSFER RNA;

ADOLESCENT; ANTICODON; ARTICLE; ATAXIA; BLOOD; CASE REPORT; CATARACT; CHEMICAL ANALYSIS; CREATININE BLOOD LEVEL; CREATININE URINE LEVEL; CYTOCHROME C OXIDASE DEFICIENCY; DYSMETRIA; ENZYME ASSAY; EPILEPSY; EPITHELIUM CELL; EYE EXAMINATION; FIBROBLAST; GAIT DISORDER; GENE MUTATION; HAIR ROOT; HISTOCHEMISTRY; HUMAN; KIDNEY EPITHELIUM; KIDNEY SCINTISCANNING; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE MITOCHONDRION; MUSCLE TISSUE; MUSCLE WEAKNESS; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PHOTOPHOBIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEINURIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINOPATHY; TREMOR;

ADOLESCENT; ANTICODON; BASE PAIRING; BASE SEQUENCE; CELL RESPIRATION; CYTOCHROME-C OXIDASE DEFICIENCY; HISTOLOGICAL TECHNIQUES; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, TRANSFER, ARG; SEQUENCE ANALYSIS, DNA; SWEDEN;

EID: 84876664364     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.153     Document Type: Article

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