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- Title
An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.
- Authors
Chuenkongkaew, W.L.; Lertrit, P.; Limwongse, C.; Nilanont, Y.; Boonyapisit, K.; Sangruchi, T.; Chirapapaisan, N.; Suphavilai, R.
- Abstract
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 11778 LHON mutation were all from branch‘a’. Three of these eight members had FSHD with a 17–27-kb deletion of a tandem repeat in the 4q35 subtelomere, and two had been clinically diagnosed as FSHD. Four of six examined members in branch‘b’ showed muscular dystrophy clinically diagnosed as FSHD. No correlation of blood DNA analysis between LHON and FSHD in affected members was found. We describe the first family with FSHD and G11778A LHON in which a mutation in mitochondrial DNA at nucleotide position 11778 of branch‘a’ was found to be the origin of the mutation.
- Subjects
DYSTROPHY; NEUROPATHY; ALTERNATIVE medicine; FACIOSCAPULOHUMERAL muscular dystrophy; MUSCULAR dystrophy; DEOXYRIBOSE
- Publication
European Journal of Neurology, 2005, Vol 12, Issue 5, p388
- ISSN
1351-5101
- Publication type
Article
- DOI
10.1111/j.1468-1331.2004.01060.x