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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620375
http://purl.bioontology.org/ontology/OMIM/620375
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 |
| Synonyms |
MYOPATHY, LIMB-GIRDLE, ADULT-ONSET
MYPLG
LGMDR28
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MYOPATHY, LIMB-GIRDLE, ADULT-ONSET
MYPLG
LGMDR28
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
|
| Gene Symbol |
LDLCQ3
LGMDR28
HMGCR
|
| Scope Statement | Caused by mutation in the 3-@hydroxy-3-methylglutaryl-CoA reductase gene (HMGCR, 142910.0003) [MOLECULAR BASIS]
Some patients show rapid progression [MISCELLANEOUS]
Variable age at onset (range first to fourth decade) [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 5q13.3-q14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620375
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830518
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |