GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy

Abstract

These phenotypes enrich the class of features associated with NOTCH2NLC-related repeat expansion disorders (NRED), and provide further evidence that the neurological symptoms of NRED include not only brain, spinal cord, and peripheral nerves damage, but also myopathy, and that overlapping symptoms might exist.