Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

Neuromuscular Disorders

Volumn 20, Issue 3, 2010, Pages 198-203

  Lesko, Nicole ^a   Naess, Karin ^a   Wibom, Rolf ^a   Solaroli, Nicola ^a   Nennesmo, Inger ^a   von Döbeln, Ulrika ^a   Karlsson, Anna ^a   Larsson, Nils Göran ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b MAX PLANCK INSTITUTE FOR BIOLOGY OF AGEING   (Germany)

Author keywords

Mitochondrial DNA; MtDNA depletion; Thymidine kinase 2 mutations

Indexed keywords

ARGININE; CYANOCOBALAMIN; MIDAZOLAM; MITOCHONDRIAL DNA; OXYGEN; PHENOBARBITAL; PHENYTOIN; PHOSPHOTRANSFERASE; THYMIDINE KINASE 2; TOPIRAMATE; TRYPTOPHAN; UNCLASSIFIED DRUG; VALPROIC ACID;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; DEATH; ELECTROENCEPHALOGRAM; ENZYME ACTIVITY; EPILEPTIC DISCHARGE; FATALITY; FATIGUE; FEMALE; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN TISSUE; INFANT; INTERMITTENT STRABISMUS; MICROCEPHALY; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL ENCEPHALOMYOPATHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE SPASM; MYOCLONUS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ONSET AGE; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY FAILURE; STOP CODON; THERAPY RESISTANCE; TONIC CLONIC SEIZURE; WEAKNESS;

ADENOSINE TRIPHOSPHATE; ARGININE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTAGENESIS, SITE-DIRECTED; MUTATION; THYMIDINE KINASE; TRYPTOPHAN;

EID: 77950520496     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.11.013     Document Type: Article

References (8)

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