Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2J

Term ID
DOID:0110283
Synonyms
  • LGMD2J
  • muscular dystrophy, limb-girdle, type 2J
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). https://www.ncbi.nlm.nih.gov/pubmed/12145747
References
Ontology
Human Disease   ( DOID:0110283 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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