Term Name: | facioscapulohumeral muscular dystrophy 3 |
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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. |
Ontology: | Human Disease [DOID:0060917] ( DOID:0060917 ) |