Article
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.
Neuromuscular disorders : NMD - 1 Jun 2014
Blakely Emma L, Alston Charlotte L, Lecky Bryan, Chakrabarti Biswajit, Falkous Gavin, Turnbull Douglass M, Taylor Robert W, Gorman Grainne S
Abstract excerpt
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, epilepsy and ragged red fibers in muscle biopsy, the m.8344A>G mutation is increasingly recognised to exhibit marked phenotypic...
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