Oculopharyngodistal myopathy (OPDM) is an ultra-rare autosomal dominant neuromuscular disease in which abnormal CGG-like nucleotide repeats have been identified in three genes (NOTCH2NLC, GIPC1, LRP12). Japanese researchers have studied the presence of p62-labeled nuclear inclusions in skin samples:
- these inclusions are similar to those described in intranuclear inclusion disease (NIID), which doesn’t include myopathy;
- in patients mutated for NOTCH2NLC, these inclusions are also found in glandular cells, adipocytes and fibroblasts present in the skin;
- skin biopsy is an interesting tool in OPDM both for diagnosis and for research.
