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
|
| 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
|
| Concept/Terms |
|
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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 1 | 0 | 1 |
| 2013 | 1 | 1 | 2 |
| 2017 | 1 | 0 | 1 |
| 2018 | 3 | 0 | 3 |
| 2020 | 2 | 0 | 2 |
| 2023 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Mitochondrial Encephalomyopathies" by people in Profiles.
-
Heteroplasmic pathogenic m.12315G>A variant in MT-TL2 presenting with MELAS syndrome and depletion of nitric oxide donors. Am J Med Genet A. 2024 03; 194(3):e63461.
-
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64.
-
LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity. Mitochondrion. 2020 03; 51:68-78.
-
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Mol Med. 2018 11; 10(11).
-
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. Clin Genet. 2018 05; 93(5):1097-1102.
-
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Hum Mutat. 2018 04; 39(4):563-578.
-
Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 12; 38(12):1649-1659.
-
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 05; 93(3):482-95.
-
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 05; 93(3):471-81.
-
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013 Apr; 10(2):186-98.