eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | melas |
| Comorbidity | C0001125|lactic acidosis |
| Sentences | 4 |
| PubMedID- 25988014 | The acronym melas (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) belies the true scope of one of the most prevalent mitochondriopathies in adults. |
| PubMedID- 23263669 | One of the most devastating phenotypes of mitochondrial diseases is melas, mitochondrial encephalopathy with lactic acidosis and stroke like syndrome, which affects children and adults, with episodes that are very similar to strokes. |
| PubMedID- 24153443 | Results: occurrence of a typical melas (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) syndrome in a single member of a large pedigree with episodic weakness associated with a later-onset distal motor neuropathy led to the disclosure of 2 deleterious mitochondrial dna mutations. |
| PubMedID- 21724600 | The m.3243a>g mutation was described as the major cause of the melas syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes). |
Page: 1