Fig. 1.

Sunburst representing the spectrum of hereditary NMDs in the patient cohort. Arranged by number of patients clockwise, the inner ring represents NMD groups as classified by The 2021 version of the gene table of neuromuscular disorders [2]; the outer ring represents short names of NMD subtypes separated by number of patients. Full names and OMIM numbers for each disorder are included in Table 2. *Marked disorders indicate either an undetermined NMD subtype with all patients having been only clinically diagnosed, or disease-gene correlations not currently recognized as a subtype on OMIM.