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

• OMIM:613152

Ontology

Human Disease   ( DOID:0112379 )