Search Ontology:
Human Disease
muscular dystrophy-dystroglycanopathy type B4
- Term ID
- DOID:0112379
- Synonyms
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- 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 )
- is a type of
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