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Results 1 - 5 of 5 for Mitochondrial disease with epilepsy
  1. ... This Health Condition MedlinePlus Genetics provides information ... called myoclonic epilepsy myopathy sensory ataxia (MEMSA), which is characterized by ...
  2. ... with cardiomyopathy, but without other common signs of mitochondrial disease such as neurological abnormalities. This mutation replaces the ... mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat. 2013 Sep;34(9):1260-8. ...
  3. ... tRNAs and the clinical features of a human mitochondrial disease. Proc Natl Acad Sci U S A. 2005 ... UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. J Neurol Sci. 2013 Feb 15;325(1- ...
  4. ... gene have been identified in people with myoclonic epilepsy with ragged-red fibers (MERRF). This condition is characterized by muscle twitches (myoclonus), recurrent seizures (epilepsy), abnormal muscle cells known as ragged-red fibers, ...
  5. ... infancy. Babies with this disorder have recurrent seizures (epilepsy), movement problems, and profoundly delayed development. They may ...