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narp syndrome
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- ... overlapping features rather than two distinct syndromes. NARP NARP syndrome Neurogenic muscle weakness, ataxia, and retinitis pigmentosa Neuropathy, ataxia, and retinitis pigmentos Genetic Testing Registry: NARP syndrome NARP syndrome National Organization for Rare Disorders (NORD) ...
- ... C in the mitochondrial ATP6 gene associated with NARP syndrome. Genes Brain Behav. 2013 Nov;12(8):812- ... ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem ...
- 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 ...
- ... 3 years after the onset of symptoms. Both NARP and Leigh syndrome can also have other causes. The prevalence of ...
- ... ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem ...
- Muscle Disorders/Specifics ... Muscle Disorders ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain ...
- ... of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP). Retinitis pigmentosa is one of the most common ...
- What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDFNeuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
- ... vision loss, and the other specific features of NARP. More About This Health ... syndrome (described above), deletion of mitochondrial DNA causes Pearson ...