PROMM in Italy: Clinical and Biomolecular findings

Proximal myotonic myopathy PROMM is a multisystem disorder, only similar to myotonic dystrophy. The genetic lesion is unknown but clinical and genetic heterogeneity exist. We describe 50 patients from 10 unrelated families in Italy to better define the clinical spectrum of the syndrome. The clinical and biomolecular findings of these patients fits the core features delineated recently at ENMC International Workshop.