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Health / X-linked recessive inheritance / Biology / Medicine / Mitochondrial diseases / Rare diseases / Pediatrics / Neurological disorders / Mohr–Tranebjærg syndrome / Dystonia


OBSERVATION A Family With X-linked Dystonia-Deafness Syndrome With a Novel Mutation of the DDP Gene Hiroshi Ujike, MD, PhD; Yasuyuki Tanabe, MD, PhD; Yasushi Takehisa, MD; Toshiyuki Hayabara, MD, PhD; Shigetoshi Kuroda,
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City

Kyoto / Okayama / /

Company

Takara Shuzo Co Ltd / /

Country

Japan / /

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Facility

Minami-Okayama Hospital / National Sanatorium / Zikei Psychiatric Institute / University Medical School / /

IndustryTerm

magnetic resonance imaging / cognition site / energy production / polymerase chain reaction products / transmembrane carrier proteins / /

MedicalCondition

slight dystonia / X-linked Dystonia-Deafness Syndrome / recessive deafness syndrome / X-linked deafness / Kennedy C. Familial syndrome / mild dystonia / deafness / restlessness / cortical blindness / early-onset deafness / paranoia / blindness / dystonia / mental deficiency / sensorineural deafness / mental retardation / disease / Human deafness dystonia syndrome / Mohr-Tranebjaerg syndrome / mitochondrial disease / mental deficiency / ataxia / autonomic symptoms / Dystonia-Deafness Syndrome / blepharospasm / dystonia / neural deafness / deafness/dystonia peptide / progressive dystonia / postlingual progressive sensorineural deafness / dystonia / syndrome / Mageroy K. Sex-linked deafness / /

Organization

Okayama University Medical School / Minami-Okayama Hospital / Zikei Psychiatric Institute / Department of Neurology / American Medical Association / Department of Neuropsychiatry / /

Person

Arch Neurol / Toshiyuki Hayabara / Yasuyuki Tanabe / Shigetoshi Kuroda / Yasushi Takehisa / Hiroshi Ujike / /

Position

driver / farmer / Corresponding author / /

Product

carbamazepine / trihexyphenidyl hydrochloride / /

Technology

Genomics / magnetic resonance imaging / /

URL

WWW.ARCHNEUROL.COM / http /

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