Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
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
Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000009438
Abstract: A 17-year-old girl presented with subacute decline in ambulation, ataxia, generalized weakness, dysphagia, and asymmetric hearing loss. MRI findings include abnormal signal in medial thalami, mesencephalon, posterior pons, and medulla oblongata (figure). Magnetic resonance spectroscopy… read more here.
Keywords: epilepsy ragged; teaching neuroimages; red fibers; myoclonic epilepsy ... See more keywords