Distal weakness with respiratory insufficiency caused by the m.8344A > G “MERRF” mutation

The m.8344A > G mutation in the mt-tRNA(Lys) gene, first described in myoclonic epilepsy and ragged red fibers (MERRF), accounts for approximately 80% of mutations in individuals with MERRF syndrome. Although originally described in families with a classical syndrome of myoclonus, ataxia, epileps...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Blakely, Emma L., Alston, Charlotte L., Lecky, Bryan, Chakrabarti, Biswajit, Falkous, Gavin, Turnbull, Douglass M., Taylor, Robert W., Gorman, Grainne S.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Pergamon Press 2014
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4047625/
https://ncbi.nlm.nih.gov/pubmed/24792523
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2014.03.011
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