Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy

PURPOSE: To define the phenotype and elucidate the molecular basis for an autosomal recessively inherited optic atrophy and auditory neuropathy in a consanguineous family with two affected children. METHODS: Family members underwent detailed ophthalmologic, electrophysiological, and audiological ass...

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Main Authors: Meyer, Esther, Michaelides, Michel, Tee, Louise J., Robson, Anthony G., Rahman, Fatimah, Pasha, Shanaz, Luxon, Linda M., Moore, Anthony T., Maher, Eamonn R.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2855733/
https://ncbi.nlm.nih.gov/pubmed/20405026
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