| Metadata | |
|---|---|
| ID | DOID:0110282 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2H |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. https://www.ncbi.nlm.nih.gov/pubmed/11822024 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
LGMD2H [EXACT] limb-girdle muscular dystrophy due to TRIM32 deficiency [EXACT] muscular dystrophy Hutterite type [EXACT] sarcotubular myopathy [EXACT] |
| Parent Relationships |