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Results 1 - 9 of 9 for merrf syndrome
  1. Myoclonic epilepsy with ragged-red fibers 
    ... 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. ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  2. MT-TK gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/mt-tk - Genetics
  3. MT-TL1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/mt-tl1 - Genetics
  4. MT-TH gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/mt-th - Genetics
  5. MT-TS1 gene 
    ... Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun. 1995 Sep 5;214( ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  6. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links
  7. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  8. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  9. Mitochondrial DNA 
    ... 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 ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics