Article
Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2006
Scaglia Fernando, Hsu Chang-Hung, Kwon Haeyoung, Bai Ren-Kui, Perng Cherng-Lih, Chang Hua-Mei, Dai Pu, Smith E O'Brian, Whiteman David A H, Feigenbaum Annette, Gropman Andrea, Wong Lee-Jun C
Abstract excerpt
PURPOSE: Hearing loss is a common clinical feature in classic mitochondrial syndromes. The purpose of this study was to evaluate the diverse molecular etiologies and natural history of hearing loss in multi-systemic mitochondrial cytopathies and the possible correlation between degree of hearing loss and neurological phenotype. METHODS: In this retrospective study we evaluated the clinical features and molecular...
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