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Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2M

Term ID
DOID:0110296
Synonyms
  • LGMD2M
  • MDDGC4
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/17044012
References
Ontology
Human Disease   ( DOID:0110296 )
Relationships
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Genes Involved
Zebrafish Models