| Autor: |
Fratter, C., Gorman, G.S., Stewart, J.D., Buddles, M., Smith, C., Evans, J., Seller, A., Poulton, J., Roberts, M., Hanna, M.G., Rahman, S., Omer, S.E., Klopstock, T., Schoser, B., Kornblum, C., Czermin, B., Lecky, B., Blakely, E.L., Craig, K., Chinnery, P.F., Turnbull, D.M., Horvath, R., Taylor, R.W. |
| Zdroj: |
Neurology (Ovid); May 2010, Vol. 74 Issue: 20 p1619-1626, 8p |
| Abstrakt: |
Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome coxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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