loading...| Preferred Name |
MERRF Syndrome |
|
| Synonyms |
Myoclonic Epilepsy and Ragged Red Fibers|Fukuhara Syndrome|Fukuhara Disease|Myoclonic Epilepsy with Ragged Red Fibers |
|
| ID |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12724 |
|
| abbrev | ||
| class_or_indiv |
true |
|
| definition |
A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects (MeSH). |
|
| external_id_urls |
http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?field=uid&term=D017243 |
|
| external_ids |
meshUID:D017243 |
|
| label |
MERRF Syndrome |
|
| mod_date |
2007-10-08 |
|
| preferred_label |
MERRF Syndrome |
|
| prefixIRI |
birnlex_12724 |
|
| retired |
false |
|
| synonyms |
Myoclonic Epilepsy and Ragged Red Fibers|Fukuhara Syndrome|Fukuhara Disease|Myoclonic Epilepsy with Ragged Red Fibers |
|
| subClassOf |
http://bioontology.org/projects/ontologies/birnlex#birnlex_12722 |