Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA Trp gene

European Journal of Human Genetics

Volumn 21, Issue 8, 2013, Pages 871-875

  Barić, Ivo ^a   Fumić, Ksenija ^b   Petković Ramadža, Danijela ^a   Sperl, Wolfgang ^c   Zimmermann, Franz A ^c   Muačević Katanec, Diana ^a,b   Mitrović, Zoran ^b   Pažanin, Leo ^b,d   Cvitanović Šojat, Ljerka ^d   Kekez, Tihomir ^b   Reiner, Željko ^a,b   Mayr, Johannes A ^c  

^a UNIVERSITY OF ZAGREB   (Croatia)

^b KBC Zagreb   (Croatia)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

^d SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

Author keywords

Mitochondrial myopathy; mtDNA mutation; tRNATrp

Indexed keywords

CARNITINE; CREATINE KINASE; CYTOCHROME C OXIDASE; DYSTROPHIN; GENOMIC DNA; TRANSFER RNA; TRYPTOPHAN;

ALLERGIC RHINITIS; ARTICLE; BASE PAIRING; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DELTOID MUSCLE; ELECTROMYOGRAPHY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HEADACHE; HISTOPATHOLOGY; HOSPITALIZATION; HUMAN; LABORATORY TEST; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MYALGIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEQUENCE ANALYSIS;

ADOLESCENT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX IV; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON; MITOCHONDRIAL MYOPATHIES; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS, SLOW-TWITCH; POINT MUTATION; RNA, TRANSFER, TRP; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 84880920723     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.272     Document Type: Article

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