FIGURE 1.

Genetic spectrum and clinical characteristics of patients with limb‐girdle muscular weakness. (a) Causative variants located in 27 different genes could be identified in 75/121 patients. The five most frequent genotypes were CAPN3, FKRP, ANO5, DYSF and SGCA and accounted for over 50% of patients with a molecular diagnosis. (b) Age at onset was most frequent in the second decade with a wide range into late adulthood. (c) In patients with molecular diagnoses, legs were more often and more severely affected by muscle weakness than arms. In patients without molecular diagnoses, by contrast, muscle weakness was similarly distributed to both legs and arms. Frequency of clinical symptoms in the total cohort (d) and as compared between patients with and without molecular diagnoses (e), with none of the symptoms differing significantly between the groups. *CACNA1S was identified together with RYR1 in the same person, and SCN4A together with DMD in another person [Colour figure can be viewed at wileyonlinelibrary.com]