Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome
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DOI: 10.1097/cm9.0000000000000151
Abstract: masticatory and facial muscles, and mild dysarthria and To the Editor: Mutations in mitochondrial DNA (mtDNA) cause mitochondrial diseases with multisystem involvedysphagia. At the age of 32, he complained of distal ment and variable clinical… read more here.
Keywords: merrf; mutation mitochondrial; mitochondrial myopathy; 5703g mutation ... See more keywords