The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

Movement Disorders

Volumn 27, Issue 8, 2012, Pages 1034-1040

  Ha, Ainhi D ^a   Parratt, Kaitlyn L ^a   Rendtorff, Nanna D ^b   Lodahl, Marianne ^b   Ng, Karl ^c,d   Rowe, Dominic B ^e   Sue, Carolyn M ^c,d   Hayes, Michael W ^d,f   Tranebjærg, Lisbeth ^b,g   Fung, Victor S C ^a,d  

^a WESTMEAD HOSPITAL   (Australia)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c ROYAL NORTH SHORE HOSPITAL   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e MACQUARIE UNIVERSITY   (Australia)

^f Department of Microbiology and Infectious Diseases   (Australia)

^g BISPEBJERG HOSPITAL   (Denmark)

Author keywords

Deafness dystonia optic neuronopathy (DDON) syndrome; Generalized dystonia; Mohr Tranebjaerg syndrome; Sensorineural hearing impairment; TIMM8A

Indexed keywords

CARRIER PROTEIN; TRANSLOCASE OF MITOCHONDRIAL INNER MEMBRANE 8A PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DEMENTIA; DISABILITY; DISEASE COURSE; DISEASE SEVERITY; DYSTONIA; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; FOCAL DYSTONIA; GAIT DISORDER; GENE DELETION; HEARING IMPAIRMENT; HUMAN; MALE; MOHR TRANEBJAERG SYNDROME; MULTIFOCAL DYSTONIA; NUCLEOTIDE SEQUENCE; ONSET AGE; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PYRAMIDAL SIGN; SEGMENTAL DYSTONIA; VISUAL IMPAIRMENT; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; AUSTRALIA; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; DEAF-BLIND DISORDERS; DISEASE PROGRESSION; DYSTONIA; EVOKED POTENTIALS, SOMATOSENSORY; EVOKED POTENTIALS, VISUAL; EXONS; FEMALE; HUMANS; INFANT; INTELLECTUAL DISABILITY; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; OPTIC ATROPHY; PEDIGREE; SEX CHARACTERISTICS; YOUNG ADULT;

EID: 84864015886     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25033     Document Type: Article

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