OBO ID: DOID:0112379
Term Name: muscular dystrophy-dystroglycanopathy type B4 Search Ontology:
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:
OTHER muscular dystrophy-dystroglycanopathy type B4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FKTN Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 613152
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.