Term Name: autosomal recessive limb-girdle muscular dystrophy type 2H
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.
Ontology: Human Disease [DOID:0110282]   ( DOID:0110282 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy