Mitochondrial Encephalomyopathies
"Mitochondrial Encephalomyopathies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
| Descriptor ID |
D017237
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| MeSH Number(s) |
C05.651.460.620 C10.228.140.163.540 C10.668.491.500.500 C18.452.132.540 C18.452.660.560.620
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Mitochondrial Encephalomyopathies".
Below are MeSH descriptors whose meaning is more specific than "Mitochondrial Encephalomyopathies".
This graph shows the total number of publications written about "Mitochondrial Encephalomyopathies" by people in this website by year, and whether "Mitochondrial Encephalomyopathies" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mitochondrial Encephalomyopathies" by people in Profiles.
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Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015 Sep; 52(9):627-35.
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Dreznik Y, Gutman M, Weiss B, Nevler A. Mitochondrial neuro-gastrointestinal encephalomyopathy presenting with recurrent bowel perforations and intra-abdominal abscesses. J Gastrointest Surg. 2014 Nov; 18(11):2054-6.
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Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat. 2013 Dec; 34(12):1619-22.
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Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, G?nther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochm?ller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009 Nov; 132(Pt 11):3165-74.
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Kirino Y, Suzuki T. Human mitochondrial diseases associated with tRNA wobble modification deficiency. RNA Biol. 2005 Apr; 2(2):41-4.