A single large-scale deletion of mtDNA in a child with recurrent encephalopathy and tubulopathy

Journal of the Neurological Sciences

Volumn 292, Issue 1-2, 2010, Pages 104-106

  Chae, Jong Hee ^a   Lim, Byung Chan ^a   Cheong, Hae Il ^a   Hwang, Yong Seung ^a   Kim, Ki Joong ^a   Hwang, Hee ^a  

^a Seoul National University College of Medicine   (South Korea)

Author keywords

Encephalopathy; Hypoparathyroidism; Leigh syndrome; Mitochondrial DNA deletion; Tubulopathy

Indexed keywords

ACETYLGLUCOSAMINIDASE; BETA 2 MICROGLOBULIN; CALCIUM; CITRATE SYNTHASE; CREATININE; CYTOCHROME C OXIDASE; DNA; MAGNESIUM; MITOCHONDRIAL DNA; MULTIVITAMIN; PARATHYROID HORMONE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; RESTRICTION ENDONUCLEASE; SUCCINATE DEHYDROGENASE;

ACIDOSIS; ARTICLE; BASE PAIRING; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE SEVERITY; DNA EXTRACTION; DNA SEQUENCE; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; FEVER; FOCAL EPILEPSY; GENE DELETION; GENETIC ANALYSIS; GRAND MAL SEIZURE; GROWTH RETARDATION; HOSPITALIZATION; HUMAN; HYPOCALCEMIA; HYPOKALEMIA; HYPOMAGNESEMIA; HYPOPARATHYROIDISM; KIDNEY TUBULE DISORDER; LEIGH DISEASE; LETHARGY; MENTAL HEALTH; MICROCYTOSIS; MOLECULAR GENETICS; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SEPSIS; SOUTHERN BLOTTING; URINARY EXCRETION; VAGINAL DELIVERY; VITAMIN SUPPLEMENTATION;

BRAIN; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FAILURE TO THRIVE; FATAL OUTCOME; FEMALE; GENE DELETION; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION;

EID: 77949875555     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.02.006     Document Type: Article

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