An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy

• Main Authors: Wanicha L. Chuenkongkaew, P. Lertrit, C. Limwongse, Y. Nilanont, K. Boonyapisit, T. Sangruchi, N. Chirapapaisan, R. Suphavilai
• Other Authors: Mahidol University
• Format: Article
• Published: 2018
• Subjects: Medicine; Neuroscience
• Online Access: https://repository.li.mahidol.ac.th/handle/123456789/16986

We performed an observational prospective analysis to study the clinical characteristics as well as a molecular genetic analysis of 17 members of a Thai family who had visual loss and/or muscle weakness. Their blood mitochondrial DNA were examined for the presence of the G11778A Leber's heredit...