A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser(UCN)) mutations in a subgroup with syndromal encephalopathy

Journal of Medical Genetics

Volumn 35, Issue 11, 1998, Pages 895-900

  Jaksch, Michaela ^a   Hofmann, Sabine ^b   Kleinle, Stephanie ^e   Liechti Gallati, Sabina ^e   Pongratz, Dieter E ^c   Müller Höcker, Josef ^d   Jedele, Kerry B ^b   Meitinger, Thomas ^b   Gerbitz, Klaus D ^a  

^a Klinikum Schwabing   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d Institute of Pathology   (Germany)

^e UNIVERSITY OF BERN   (Switzerland)

Author keywords

Cytochrome c oxidase (COX) deficiency; Deafness; Mitochondrial tRNA mutations; Myoclonus epilepsy

Indexed keywords

CYTOCHROME C OXIDASE; DNA FRAGMENT; SERINE TRANSFER RNA;

ARTICLE; ATAXIA; BRAIN DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SEQUENCE; ENZYME DEFICIENCY; ENZYME SUBUNIT; FEMALE; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MYOCLONUS EPILEPSY; NEWBORN; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

ATAXIA;

EID: 0031788095     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.11.895     Document Type: Article

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