Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation
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چکیده
منابع مشابه
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, epilepsy and ragged red fibers in muscle biopsy, the m.8344A>G mutation is increasingly recognised to exhibit...
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We have designed mitochondrially targeted transcription activator-like effector nucleases or mitoTALENs to cleave specific sequences in the mitochondrial DNA (mtDNA) with the goal of eliminating mtDNA carrying pathogenic point mutations. To test the generality of the approach, we designed mitoTALENs to target two relatively common pathogenic mtDNA point mutations associated with mitochondrial d...
متن کاملSimultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.
The association of a particular mitochondrial DNA (mtDNA) mutation with different clinical phenotypes is a well-known feature of mitochondrial diseases. A simple genotype-phenotype correlation has not been found between mutation load and disease expression. Tissue and intercellular mosaicism as well as mtDNA copy number are thought to be responsible for the different clinical phenotypes. As dis...
متن کاملScotosensitive myoclonic seizures in MERRF.
A 42-year-old woman presented with a history of intractable eye-closure-sensitive myoclonic and grand mal seizures since age 22, resulting in falls and fractures. She also had five episodes of status epilepticus. She denied visual phenomena, eyelid myoclonus, and absence seizures. She had normal cognitive function, but proximal muscle weakness of all extremities. Her EEG revealed eye-closure-in...
متن کاملMutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy
PURPOSE The group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form. The underlying genetic defect in most patients with the syndrome of MERRF is a mutation in the tRNALys gene, but mutations were also detected in the tRNAPhe gen...
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عنوان ژورنال:
دوره 16 شماره
صفحات -
تاریخ انتشار 2017