Search Ontology:
Human Disease

muscular dystrophy-dystroglycanopathy type B4

Term ID
DOID:0112379
Synonyms
  • congenital muscular dystrophy FKTN-related
  • MDDGB4
Definition
A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. https://pubmed.ncbi.nlm.nih.gov/17878207/
References
Ontology
Human Disease   ( DOID:0112379 )
Relationships
is a type of
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Genes Involved
Zebrafish Models