A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion

European Journal of Paediatric Neurology

Volumn 12, Issue 4, 2008, Pages 309-313

  Leshinsky Silver, E ^a   Michelson, M ^a   Cohen, S ^a   Ginsberg, M ^a   Sadeh, M ^a   Barash, V ^b   Lerman Sagie, T ^a   Lev, D ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Mitochondrial myopathy; mtDNA depletion; Respiratory chain; Thymidine kinase 2

Indexed keywords

MITOCHONDRIAL DNA; THYMIDINE KINASE; THYMIDINE KINASE 2;

ARTICLE; CASE REPORT; ENZYME ACTIVITY; GENE MUTATION; HOMOZYGOTE; HUMAN; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; PRIORITY JOURNAL; SCHOOL CHILD;

BLOTTING, SOUTHERN; CHILD; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; HUMANS; MALE; MICROSCOPY, ELECTRON; MITOCHONDRIAL MYOPATHIES; MUSCLE, SKELETAL; POLYMERASE CHAIN REACTION; THYMIDINE KINASE;

EID: 43549096453     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.09.005     Document Type: Article

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