facioscapulohumeral muscular dystrophy 3

Term ID

DOID:0060917

Synonyms

• facioscapulohumeral muscular dystrophy type 3
• FSHD3

Definition

A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. https://pubmed.ncbi.nlm.nih.gov/32467133/

References

• OMIM:619477

Ontology

Human Disease   ( DOID:0060917 )