Oculo-pharyngo-distal myopathy (OPDM) is due to a repeat of CGG triplets in the 5′ untranslated region of one of the LRP12, GIPC1, NOTCH2NLC or RILPL1 genes. Only one Japanese family with MODP due to a CGG repeat in the LOC642361/NUMTM2B-AS1 gene has been described to date. In a new publication, a Chinese team reports :
- long-read sequencing was performed on 26 patients with MOPD of no known genetic cause
- two of them were unrelated and had a CGG triplet repeat in the LOC642361/NUMTM2B-AS1 gene.
