Fig. 2

Clinical images from selected cases. a: case 4 at 16 years old presenting a distal phenotype with weakness and atrophy of upper limbs whereas shoulder girdle is normal. Note mild ptosis and calf hypertrophy. b: case 7 at 5 years of age. Strength is preserved except in axial muscle with dropped head. Mild ptosis is also present. The boy was also diagnosed with non-compacted left ventricle. c and d: two pictures of hands weakness (case 5 and 8) particularly affecting third, fourth and fifth fingers whereas second and first finger are spared. As consequence, patients have difficulties in raising the ulnar part of the hand. In (e) the bent appearance of the spine in patients 8. Note also the severe distal atrophy of lower limbs for which the patient had a diagnosis of motor neuropathy