Version: 8.0.0
Date: Tue Jan 28 2025
oculopharyngodistal myopathy 1
DOID:0081297
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

oculopharyngodistal myopathy 1

Definition
An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22.
Synonyms
None
Cross References
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