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oculopharyngodistal myopathy 1
Summary
- 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.
- Super Class
- autosomal dominant disease oculopharyngodistal myopathy
External Links
- Disease Ontology
- DOID:0081297
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y561 | Low-density lipoprotein receptor-related protein 12 |
