Fig. 1.

Clinical and genetic spectrum of patients with CMS in Austria. A Frequency of phenotypic features compared between patients with CHRNE-associated CMS and the remaining molecular etiologies. The CHRNE subgroup is predominantly characterized by ocular features (ophthalmoparesis/ophthalmoplegia and ptosis) and the absence of respiratory symptoms, while limb and bulbar weakness was more commonly observed in patients with other CMS forms. B The identification of nine different molecular etiologies within the cohort reflects the remarkable genetic heterogeneity of CMS. CHRNE and DOK7 are the two most commonly mutated genes together accounting for more than 60% of the whole cohort