Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome)

PLoS ONE

Volumn 5, Issue 10, 2010, Pages

  Brinckmann, Anja ^a   Weiss, Claudia ^a   Wilbert, Friederike ^a   Von Moers, Arpad ^b   Zwirner, Angelika ^a   Stoltenburg Didinger, Gisela ^a   Wilichowski, Ekkehard ^c   Schuelke, Markus ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b DRK KLINIKEN BERLIN WESTEND   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL TRANSCRIPTION FACTOR A; PORIN; TRANSCRIPTION FACTOR NRF1; VOLTAGE DEPENDENT ANION CHANNEL 1; PRIMER DNA;

ADOLESCENT; ARTICLE; AUTOPSY; BRAIN CORTEX; BRAIN REGION; BRAIN TISSUE; CASE REPORT; CONTROLLED STUDY; DNA REPLICATION; FEMALE; GENE DOSAGE; GENE MUTATION; HEART; HIPPOCAMPUS; HUMAN; HUMAN TISSUE; INTESTINE; KIDNEY PARENCHYMA; LUNG PARENCHYMA; MERRF SYNDROME; MITOCHONDRION; MUSCLE TISSUE; PUTAMEN; SKELETAL MUSCLE; STOMACH; TISSUE SPECIFICITY; GENETICS; MALE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

ADOLESCENT; BASE SEQUENCE; BLOTTING, WESTERN; DNA PRIMERS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MERRF SYNDROME; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 78149418393     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013513     Document Type: Article

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