Classical MERRF phenotype associated with mitochondrial tRNA Leu (m.3243A>G) mutation

European Journal of Pediatrics

Volumn 171, Issue 5, 2012, Pages 859-862

  Brackmann, Florian ^a   Abicht, Angela ^b   Ahting, Uwe ^c   Schröder, Rolf ^a   Trollmann, Regina ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b Medical Genetic Center   (Germany)

^c Stadtisches Klinikum   (Germany)

Author keywords

Epilepsy; MELAS; MERRF; Mitochondriopathy; Paediatrics

Indexed keywords

CARNITINE; CREATINE KINASE; ETHOSUXIMIDE; ETIRACETAM; LAMOTRIGINE; MITOCHONDRIAL ENZYME; MITOCHONDRIAL RNA; TOPIRAMATE; TRANSFER RNA; UBIQUINONE;

ADOLESCENT; ARTICLE; BASAL GANGLION; BRAIN CALCIFICATION; CASE REPORT; CREATINE KINASE BLOOD LEVEL; DYSTROPHINOPATHY; ELECTROENCEPHALOGRAM; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; MALE; MELAS SYNDROME; MERRF SYNDROME; MUSCLE BIOPSY; MUTATION; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; TONIC CLONIC SEIZURE; VASTUS LATERALIS MUSCLE; WEAKNESS;

ADOLESCENT; DNA, MITOCHONDRIAL; HUMANS; MAGNETIC RESONANCE IMAGING; MELAS SYNDROME; MERRF SYNDROME; MUSCLES; MUTATION; PHENOTYPE; RNA; RNA, TRANSFER, LEU; SEIZURES;

EID: 84860285798     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1662-8     Document Type: Article

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