TK2 mutation presenting as indolent myopathy

Neurology

Volumn 80, Issue 5, 2013, Pages 504-506

  Paradas, Carmen ^a,b,c   Ríos, Purificacion Gutiérrez ^b   Rivas, Eloy ^c   Carbonell, Pilar ^a   Hirano, Michio ^b   DiMauro, Salvatore ^b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b Department of Medicine   (United States)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; CITRATE SYNTHASE; CREATINE KINASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE; THYMIDINE KINASE; THYMIDINE KINASE 2; UNCLASSIFIED DRUG;

ADULT; ARM WEAKNESS; ARTICLE; CASE REPORT; CONTRACTURE; CREATINE KINASE BLOOD LEVEL; DYSARTHRIA; DYSPHAGIA; ENZYME ACTIVITY; GENE MUTATION; GLUTEUS MAXIMUS MUSCLE; GYNECOMASTIA; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; LIMB WEAKNESS; MALE; MITOCHONDRIAL DNA DEPLETION; MUSCLE WEAKNESS; MYOPATHY; PHYSICAL EXAMINATION; PNEUMONIA; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY ARREST; SEMITENDINOUS MUSCLE; TRACHEOSTOMY;

DNA, MITOCHONDRIAL; HUMANS; MALE; MUSCULAR DISEASES; MUTATION; THYMIDINE KINASE; YOUNG ADULT;

EID: 84873615990     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827f0ff7     Document Type: Article

References (6)

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4. Oskoui M, Davidzon G, Pascual J, et al. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thy-midine kinase 2 gene. Arch Neurol 2006;63:1122-1126. (Pubitemid 44232318)
5. Tyynismaa H, Sun R, Ahola-Erkkila S, et al. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet 2012;21:66-75.
6. Behin A, Jardel C, Claeys KG, et al. Adult cases of mito-chondrial DNA depletion due to TK2 defect: an expanding spectrum. Neurology 2012;78:644-648.