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

@article{Chuenkongkaew2005AnUF,
  title={An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.},
  author={Wanicha L. Chuenkongkaew and Patcharee Lertrit and Chanin Limwongse and Yongchai Nilanont and Kanokwan Boonyapisit and Tumtip Sangruchi and Niphon Chirapapaisan and Rungnapa Suphavilai},
  journal={European journal of neurology},
  year={2005},
  volume={12 5},
  pages={388-91}
}
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 hereditary optic neuropathy (LHON) mutation. Facioscapulohumeral muscular dystrophy (FSHD) DNA analysis was performed in four members who had visual loss. Of 17 family members, the eight members who had the… CONTINUE READING
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