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MERRF syndrome
- ... no family history of MERRF. Fukuhara disease MERRF MERRF syndrome Myoclonic epilepsy associated with ragged-red fibers Myoencephalopathy ragged-red fiber disease Genetic Testing Registry: MERRF syndrome MERRF National Organization for Rare Disorders (NORD) ClinicalTrials. ...
- ... MELAS). These affected individuals are said to have MERRF/MELAS overlap syndrome. Additional signs and symptoms of this syndrome include ... mutation in the MT-TK gene that causes MERRF/MELAS overlap syndrome changes a single nucleotide in the gene. Specifically, ...
- ... This combination of signs and symptoms is called MERRF/MELAS overlap syndrome. The features of this syndrome include muscle twitches ( ... hearing loss, seizures, and diabetes.Mutations that cause MERRF/MELAS overlap syndrome each change single nucleotides in the MT-TL1 ...
- ... This combination of signs and symptoms is called MERRF/MELAS overlap syndrome.MT-TH gene mutations that cause MELAS and MERRF/MELAS overlap syndrome change single DNA building blocks (nucleotides) in the ...
- ... Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun. 1995 Sep 5;214( ...
- ... symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide instructions for making tRNA molecules, ... more than 80 percent of all cases of MERRF. This mutation, written as A8344G, replaces the nucleotide ...