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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618129
http://purl.bioontology.org/ontology/OMIM/618129
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 |
| Synonyms |
LGMDD4
LGMD1I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LGMDD4
LGMD1I
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1I
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|---|---|
| prefLabel | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
|
| Gene Symbol |
CANP3
CAPN3
LGMDR1
LGMDD4
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| Scope Statement | Reported in families of Northern European descent who share the same mutation [MISCELLANEOUS]
Some mutation carriers may be asymptomatic [MISCELLANEOUS]
Adult onset (average 37 years) [MISCELLANEOUS]
Some patients may become wheelchair-bound [MISCELLANEOUS]
Caused by mutation in the calpain 3 gene (CAPN3, 114240.0011) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 15q15.1-q21.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618129
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748295
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |