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References OMIM Gene GeneReviews HGMD HGNC
last update : 08-03-2022
Symbol OPDM4
Location 12q24.31
Name oculopharyngodistal myopathy 4
Corresponding gene RILPL1
Main clinical features
  • progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs
  • serum creatine kinase often increased, and skeletal muscle biopsy typically shows chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions
  • distal-limb muscle weakness observed in OPDM4 developed more slowly than in the other three subtypes (PMID: 3518830)
  • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s) . heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene (PMID: 3518830)