MELAS
From Wikipedia, the free encyclopedia
OMIM | 540000 |
---|---|
DiseasesDB | 8254 |
eMedicine | ped/1406 |
MELAS is an acronym for Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes. MELAS is one of the family of mitochondrial cytopathies, which also include MERRF, and Leber's Hereditary Optic Atrophy. A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. The disease can manifest in both sexes.
[edit] References
- Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome". Ann Neurol 16 (4): 481-8. PMID 6093682.
- Hirano M, Pavlakis SG (1994). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts". J Child Neurol 9 (1): 4-13. PMID 8151079.
- Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, DiMauro S, Rowland LP (1992). "Melas: an original case and clinical criteria for diagnosis". Neuromuscul Disord 2 (2): 125-35. PMID 1422200.