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GENATLAS PHENOTYPE
last update : 31-08-2020
Symbol OPDM2
Location 19p13.12
Name oculopharyngodistal myopathy 2
Corresponding gene GIPC1
Main clinical features
  • adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles
  • mean age of onset was 27.0 ± 7.2 years (ranging between 14 and 38 years; disease duration ranged from 1 to 24 years. Initial symptoms included muscle weakness of distal limb in ten individuals, ptosis in one individual, and weakness in closing eyes in one individual
  • presence of rimmed vacuoles (RVs) in the muscle fibers and myopathic changes of differing severity
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s)
  • affected individuals carried expanded GGC repeats, with the numbers of GGC repeat units ranging from 88 to 164 ( GGC repeat sizes in the GIPC1 gene ranged from 12 to 32 in 550 unaffected control) (PMID: 32413282))