autosomal recessive limb-girdle muscular dystrophy type 2P

Term ID

DOID:0110293

Synonyms

• LGMD2P
• MDDGC9
• muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
• muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/21388311

References

• ICD10CM:G71.0
• OMIM:613818
• ORDO:280333

Ontology

Human Disease   ( DOID:0110293 )