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Human Disease
facioscapulohumeral muscular dystrophy 4
- Term ID
- DOID:0060918
- Synonyms
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- facioscapulohumeral muscular dystrophy type 4
- FSHD4
- Definition
- A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/27153398/
- References
- Ontology
- Human Disease ( DOID:0060918 )
- is a type of
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