Fig. 2

Muscle MRIs of the patients. a–j are lower muscle MRIs, each row belongs to one patient which are patient II-6 (family A), II-2 (family B), III-1 (family B), III-1 (family C) and II-2 (family D) respectively. Thigh muscle MRIs are on the left, and calf muscle MRIs are on the right. k–l are lumbar muscle MRIs of patient II-2 (family D). Detailed descriptions of the MRIs are present in the main text