1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1007/bf02254979" target="_blank" rel="noreferrer">http://doi.org/10.1007/bf02254979</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies Publisher An entity responsible for making the resource available Journal Of Biomedical Science Date A point or period of time associated with an event in the lifecycle of the resource 2002 Subject The topic of the resource Child; Female; Humans; Male; Adult; Prognosis; Mutation; adolescent; Q3 Literature Search; DNA; Muscle; Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics; Mitochondrial/genetics; Skeletal/pathology Creator An entity primarily responsible for making the resource Huang CC; Kuo HC; Chu CC; Liou CW; Ma YS; Wei YH Description An account of the resource We studied 42 individuals, including 8 patients with either complete or partial syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 8 patients with either complete or partial syndrome of myoclonic epilepsy with ragged-red fibers (MERRF) and 26 maternal family members who carried either the A3243G or A8344G mutation of mitochondrial DNA (mtDNA). Clinical manifestations and prognosis were followed up in the patients harboring the A3243G or A8344G mutation. The relationship between clinical features and proportions of mutant mtDNAs in muscle biopsies, blood cells and/or hair follicles was studied. In the 8 regularly followed patients with the A3243G mutation, 4 died within 1 month to 7 years due to status epilepticus and/or recurrent stroke-like episodes. Two patients developed marked mental deterioration and 2 remained stationary. All of the patients harboring the A8344G mutation were stable or deteriorated slightly, except for 1 patient who died due to brain herniation after putaminal hemorrhage. The A3243G and A8344G mtDNA mutations were heteroplasmic in the muscle biopsies, blood cells and hair follicles of both the probands and their maternal family members. The mean proportion of A3243G mutant mtDNA in the muscle biopsies of the patients with MELAS syndrome (68.5 +/- 21.3%, range 33-92%) was significantly higher than that of the asymptomatic family members (37.1 +/- 12.6%, range 0-51%). The average proportions of A8344G mutant mtDNA in the muscle biopsies (90.1 +/- 3.9%, range 89-95%) and hair follicles (93.9 +/- 6.4%, range 84-99%) of the patients with MERRF syndrome were also significantly higher than those of the asymptomatic family members (muscle: 40.3 +/- 39.5%, range 1-80%; hair follicles: 51.0 +/- 44.5%, range 0.1-82%). We concluded that measurement of the proportion of mutant mtDNA in muscle biopsies may provide useful information in the identification of symptomatic patients with mitochondrial encephalomyopathies. For patients with the A3243G mutation, the prognosis was related to status epilepticus and the number of recurrent stroke-like episodes and was much worse than for patients with the A8344G mutation of mtDNA, who had stable or slowly deteriorating clinical courses. 2002 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1007/bf02254979" target="_blank" rel="noreferrer">10.1007/bf02254979</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2002 Adolescent Adult Backlog Child Chu CC DNA Female Huang CC Humans Journal Article Journal Of Biomedical Science Kuo HC Liou CW Ma YS Male Mitochondrial Encephalomyopathies/diagnosis/etiology/genetics Mitochondrial/genetics Muscle Mutation Prognosis Q3 Scoping Review Results Skeletal/pathology Wei YH