A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome

European Journal of Human Genetics

Volumn 8, Issue 6, 2000, Pages 464-467

  Tranebjærg, Lisbeth ^a   Hamel, Ben C J ^b   Gabreels, Fons J M ^c   Renier, Willy O ^c   Van Ghelue, Marijke ^a  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b Department of Human Genetics   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

DDP gene; Dystonia; Hearing impairment; Mitochondrial dysfunction

Indexed keywords

CARRIER PROTEIN;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DYSTONIA; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; MALE; MEMBRANE TRANSPORT; MENTAL DETERIORATION; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NERVE DEGENERATION; NETHERLANDS; PARANOID PSYCHOSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE HOMOLOGY; VISUAL DISORDER; X CHROMOSOME LINKAGE;

EID: 0034039615     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200483     Document Type: Article

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