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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C580316
http://purl.bioontology.org/ontology/MESH/C580316
|
|---|---|
| Preferred Name | Myofibrillar Myopathy |
| Synonyms |
Myofibrillar Myopathies
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | Myofibrillar Myopathies
|
|---|---|
| prefLabel | Myofibrillar Myopathy
|
| TH | GHR (2014)
|
| notation | C580316
|
| MMR | 20160707
|
| MeSH Frequency | 80
|
| Semantic type UMLS property | |
| HM | D020914
|
| Inverse of RB | 0
|
| Scope Statement | A group of herditary myopathies that may be autosomal dominant or recessive. They are caused by mutations in different genes but are morphologically homogeneous. Morphologic changes in skeletal muscle result from disintegration of the sarcomeric Z disc and the MYOFIBRILS, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including DESMIN; ALPHA-B-CRYSTALLIN; DYSTROPHIN; and myotilin (OMIM: 604103). OMIM: 601419
|
| MDA | 20131024
|
| SC | 3
|
| type | |
| Mapped to | |
| tui | T047
|
| cui | C2678065
|
| TERMUI |
T842101
T842102
|
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