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

• ICD10CM:G71.0
• OMIM:254110
• ORDO:1878

Ontology

Human Disease   ( DOID:0110282 )