oculopharyngodistal myopathy 1

Term ID

DOID:0081297

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/31332380/

References

• OMIM:164310

Ontology

Human Disease   ( DOID:0081297 )