Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

Human Molecular Genetics

Volumn 21, Issue 1, 2012, Pages 66-75

  Tyynismaa, Henna ^a   Sun, Ren ^c   Ahola Erkkilä, Sofia ^a   Almusa, Henrikki ^b   Pöyhönen, Rosanna ^a   Korpela, Mari ^d   Honkaniemi, Jari ^e   Isohanni, Pirjo ^a   Paetau, Anders ^b   Wang, Liya ^c   Suomalainen, Anu ^a,b,d  

^a BIOMEDICUM HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c Physiology and Biochemistry   (Sweden)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; RECOMBINANT PROTEIN; THYMIDINE KINASE; THYMIDINE KINASE 2; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DNA REPAIR; DNA REPLICATION; ENZYME ACTIVITY; EXOME; FIBROBLAST; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA REPLICATION; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MIDDLE AGED; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; SEQUENCE ALIGNMENT; SEQUENCE DELETION; THYMIDINE KINASE;

EID: 83455162747     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr438     Document Type: Article

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