oculopharyngodistal myopathy 2

Term ID

DOID:0081298

Synonyms

Definition

An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/32413282/

References

• OMIM:618940

Ontology

Human Disease   ( DOID:0081298 )