autosomal recessive limb-girdle muscular dystrophy type 2K

Term ID

DOID:0110297

Synonyms

• LGMD2K
• limb-girdle muscular dystrophy-intellectual disability syndrome
• MDDGC1
• muscular dystrophy limb-girdle type 2K
• muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). https://www.ncbi.nlm.nih.gov/pubmed/15792865

References

• ICD10CM:G71.0
• OMIM:609308
• ORDO:86812

Ontology

Human Disease   ( DOID:0110297 )