Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)

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)
Also Known As:
Mitochondrial Encephalomyopathy; Encephalomyopathy, Mitochondrial; Encephalomyopathies, Mitochondrial
Networked: 401 relevant articles (5 outcomes, 27 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Lactic Acidosis
2. Stroke (Strokes)
3. Status Epilepticus (Complex Partial Status Epilepticus)
4. Myoclonic Epilepsies (Myoclonic Encephalopathy)
5. Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)


1. Yuan, Yun: 6 articles (01/2014 - 07/2002)
2. Zeviani, Massimo: 5 articles (07/2015 - 09/2008)
3. Santorelli, Filippo M: 5 articles (03/2015 - 11/2006)
4. Qi, Yu: 5 articles (04/2013 - 07/2002)
5. DiMauro, Salvatore: 5 articles (08/2010 - 10/2004)
6. Ghezzi, Daniele: 4 articles (07/2015 - 09/2008)
7. Wei, Yau-Huei: 4 articles (05/2005 - 01/2002)
8. Lamperti, Costanza: 3 articles (07/2015 - 04/2010)
9. Bruno, Claudio: 3 articles (03/2015 - 11/2006)
10. Suomalainen, Anu: 3 articles (03/2015 - 05/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mitochondrial Encephalomyopathies:
1. coenzyme Q10 (CoQ10)IBA
2. Leu Transfer RNAIBA
3. idebenoneIBA
4. Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA
02/01/2009 - "Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient."
05/15/2009 - "We found that the PGC-1alpha and/or PGC-1beta expression improved mitochondrial respiration in cells harboring a complex III or IV deficiency as well as in transmitochondrial cybrids harboring mitochondrial encephalomyopathy lactic acidosis and stroke A3243G tRNA((Leu)UUR) gene mutation. "
12/01/2000 - "Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene."
01/01/1993 - "The levels of mitochondrial electron transport system proteins cytochrome c oxidase (COX) and complex III were measured in muscle fibers of patients with mitochondrial encephalomyopathy using quantitative immunoelectron microscopy. "
08/01/2011 - "General conclusions are that: (i) disorders of glycogen metabolism are more likely to cause 'fetal disease' than defects of the respiratory chain; (ii) mitochondrial encephalomyopathies, especially those due to defects of the nuclear genome, are frequent causes of neonatal or infantile diseases, typically Leigh syndrome, but usually do not cause fetal distress; (iii) notable exceptions include mutations in the complex III assembly gene BCS1L resulting in the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death), and defects of mitochondrial protein synthesis, which are the 'new frontier' in mitochondrial translational research."
5. CreatineIBA
6. Cytochromes c (Cytochrome c)IBA
7. Thiamine PyrophosphateIBA
8. Flavin Mononucleotide (FMN)IBA
9. lamotrigine (Lamictal)FDA LinkGeneric
10. thiamine pyrophosphate drug combination flavin mononucleotide cytochrome CIBA

Therapies and Procedures

1. Intravenous Injections
2. Anesthesia
3. Intravenous Anesthesia
4. General Anesthesia
5. Micro-Electrical-Mechanical Systems