نتایج جستجو برای: merrf

تعداد نتایج: 762  

2014
ANKE LINDNER MICHAEL SHELLEY

Journal: :Human molecular genetics 2011
Florin Sasarman Hana Antonicka Rita Horvath Eric A Shoubridge

MTU1 (TRMU) is a mitochondrial enzyme responsible for the 2-thiolation of the wobble U in tRNA(Lys), tRNA(Glu) and tRNA(Gln), a post-transcriptional modification believed to be important for accurate and efficient synthesis of the 13 respiratory chain subunits encoded by mtDNA. Mutations in MTU1 are associated with acute infantile liver failure, and this has been ascribed to a transient lack of...

Journal: :Seizure 2013
Gábor Zsurka Felicitas Becker Markus Heinen Hans-Jürgen Gdynia Holger Lerche Wolfram S. Kunz Yvonne G. Weber

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...

2017
Khaled K Abu-Amero Altaf A Kondkar Kakarla V Chalam

In this review, we comprehensively describe ophthalmic diseases with mitochondrial DNA mutation such as Leber's hereditary optic neuropathy (LHON), progressive external ophthalmoplegia (PEO) and Kearns-Sayre Syndrome (KSS). Ocular involvement is a prominent clinical feature of various mitochondrial diseases as well. The known mitochondrial disorders such as Mitochondrial encephalomyopathy, lact...

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