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Article

Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.

PloS one - 1 Jan 2012

Bae Jae Woong, Kim Dong-Bin, Choi Jae Young, Park Hong-Joon, Lee Jong Dae, Hur Dong Gu, Bae Seung-Hyun, Jung Da Jung, Lee Sang Heun, Kim Un-Kyung, Lee Kyu Yup

Abstract excerpt

Hearing loss, which is genetically heterogeneous, can be caused by mutations in the mitochondrial DNA (mtDNA). The A1555G mutation of the 12S ribosomal RNA (rRNA) gene in the mtDNA has been associated with both aminoglycoside-induced and non-syndromic hearing loss in many ethnic populations. Here, we report for the first time the clinical and genetic characterization of nine Korean pedigrees with...

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Identifiers

PMID: 22879993
DOI: 10.1371/journal.pone.0042463
PMCID: PMC3412860

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