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Human Disease

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
Ontology
Human Disease   ( DOID:0081298 )
Relationships
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Genes Involved
Zebrafish Models