Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2H

Term ID
DOID:0110282
Synonyms
  • LGMD2H
  • limb-girdle muscular dystrophy due to TRIM32 deficiency
  • muscular dystrophy Hutterite type
  • sarcotubular myopathy
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
References
Ontology
Human Disease   ( DOID:0110282 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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