OBO ID: DOID:0110285
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2Q Search Ontology:
Synonyms:
  • autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
  • LGMD2Q
  • muscular dystrophy, limb-girdle, type 2Q
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. https://www.ncbi.nlm.nih.gov/pubmed/21109228
References:
Ontology: Human Disease   (DOID:0110285)
OTHER autosomal recessive limb-girdle muscular dystrophy type 2Q PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLEC Muscular dystrophy, limb-girdle, autosomal recessive 17 613723
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None