Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

Brain

Volumn 130, Issue 11, 2007, Pages 3032-3040

  Hakonen, Anna H ^a   Isohanni, Pirjo ^a,b   Paetau, Anders ^a   Herva, Riitta ^c   Suomalainen, Anu ^a,d   Lönnqvist, Tuula ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c OULU UNIVERSITY HOSPITAL   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Alpers; Encephalopathy; IOSCA; mtDNA; Twinkle

Indexed keywords

AMINOTRANSFERASE; ANTICONVULSIVE AGENT; BARBITURIC ACID DERIVATIVE; BENZODIAZEPINE DERIVATIVE; CARBAMAZEPINE; DNA DIRECTED DNA POLYMERASE GAMMA; DNA POLYMERASE; MITOCHONDRIAL DNA; PHENOBARBITAL; PHENYTOIN; PROTEIN DERIVATIVE; TWINKLE PROTEIN; UNCLASSIFIED DRUG;

ALPERS DISEASE; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ATAXIA; ATHETOSIS; BRAIN DISEASE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EPILEPSY; GENE MUTATION; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTRACTABLE EPILEPSY; LIVER DISEASE; MALE; MITOCHONDRIAL DNA DEPLETION; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; OPHTHALMOPLEGIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE GENE; SENSORY NEUROPATHY; SIBLING;

EID: 35649024143     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm242     Document Type: Article

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