Myoclonic Epilepsy With Ragged Red Fibers
Last Posted: Mar 01, 2023
- Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study.
Primiano Guido, et al. Neurology 2020 0 (2) e241-e249
- Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene.
Mara? Genç Hülya, et al. Molecular syndromology 2022 0 (4) 305-317
- Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
Song D, et al. Chinese medical journal 2002 0 (12) 1273-5
- Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
Mancuso Michelangelo, et al. Neurology 2013 5 (22) 2049-54
- Myoclonic epilepsy with ragged red fibers
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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