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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620971
http://purl.bioontology.org/ontology/OMIM/620971
|
|---|---|
| Preferred Name | MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2 |
| Synonyms |
MMCKR2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MMCKR2
|
|---|---|
| prefLabel | MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2
|
| Gene Symbol |
DTNA
DRP3
LVNC1
MMCKR2
D18S892E
|
| Scope Statement | Variable severity [MISCELLANEOUS]
Caused by mutation in the dystrobrevin, alpha gene (DTNA, 601239.0003) [MOLECULAR BASIS]
Variable age at symptom onset (range first to fourth decade) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 18q12.1-q12.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620971
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975449
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |