Results 1 -
10
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32
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"Epilepsy," mitochondrial
- ... Procaccio V, Rotig A, Paquis-Flucklinger V. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J ...
- ... Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser( ...
- ... Procaccio V, Rotig A, Paquis-Flucklinger V. Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J ...
- Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Muscle Disorders/Specifics ... Muscle Disorders
- ... TH gene mutation also have features of another mitochondrial disorder called myoclonic epilepsy with ragged-red fibers (MERRF); these additional features ...
- ... Turnbull DM, Omer SE, Taylor RW. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. ...
- Mitochondrial Diseases (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- ... Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 ...
- ... Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 ...
- 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 ...