Term Name: oculopharyngodistal myopathy 2
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.
Ontology: Human Disease [DOID:0081298]   ( DOID:0081298 )

Relationships
is a type of: autosomal dominant disease oculopharyngodistal myopathy