Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2G

Term ID
DOID:0110281
Synonyms
  • LGMD2G
  • limb-girdle muscular dystrophy due to telethonin deficiency
  • muscular dystrophy, limb-girdle, type 2G
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). https://www.ncbi.nlm.nih.gov/pubmed/10655062
References
Ontology
Human Disease   ( DOID:0110281 )
Relationships
is a type of
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Genes Involved
Zebrafish Models