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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/254110
http://purl.bioontology.org/ontology/OMIM/254110
|
|---|---|
| Preferred Name | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 |
| Synonyms |
SARCOTUBULAR MYOPATHY
LGMDR8
LGMD2H
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
MUSCULAR DYSTROPHY, HUTTERITE TYPE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SARCOTUBULAR MYOPATHY
LGMDR8
LGMD2H
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H
MUSCULAR DYSTROPHY, HUTTERITE TYPE
|
|---|---|
| prefLabel | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8
|
| Gene Symbol |
LGMDR8
BBS11
HT2A
TRIM32
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
High frequency in Hutterite population [MISCELLANEOUS]
Highly variable phenotype and severity [MISCELLANEOUS]
Caused by mutation in the tripartite motif-containing protein 32 gene (TRIM32, 602290.0001) [MOLECULAR BASIS]
Onset usually in childhood (1 to 9 years of age) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui |
T047
T019
|
| Gene Locus | 9q31-q34.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 254110
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0270968
|
| Moved from | 268950
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |