Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0110297 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models