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Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family: A case report

RATIONALE: Mitochondrial DNA mutations have been associated with many maternal inherited diseases. A1555G mutation in mtDNA effects the gene code for rRNA, resulting in the structural change of human ribosome rending it susceptible to binding of the common antibiotic, aminoglycosides. Such mutation...

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Detalles Bibliográficos
Autores principales: Ou, Yang-Hao, Chen, Andy Wei-Ge, Fan, Jun-Yang, Cheng, Wen-Ling, Lin, Ta-Tsung, Chen, Mu-Kuan, Liu, Chin-San
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211905/
https://www.ncbi.nlm.nih.gov/pubmed/30335006
http://dx.doi.org/10.1097/MD.0000000000012878