autosomal recessive limb-girdle muscular dystrophy type 2U

Term ID

DOID:0110295

Synonyms

• autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
• LGMD2U
• MDDGC7
• muscular dystrophy limb-girdle type 2U
• muscular dystrophy-dystroglycanopathy (limb-girdle) type C7

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/23390185

References

• ICD10CM:G71.0
• OMIM:616052
• ORDO:352479

Ontology

Human Disease   ( DOID:0110295 )