Fig. 1.

Typical features in TTN-related myopathies. This 38-year-old patient presented with hypotonia and ventricular non-compaction from birth. Subsequently, his motor development was delayed. His stature was short, he had a myopathic face with pronounced ptosis (a), multiple contractures prominently involving the elbows and shoulders (b, c), and spinal rigidity (d). He developed a dilated cardiomyopathy from his teens. The most prominent feature on muscle biopsy are numerous centralized nuclei (e) leading to an initial diagnosis of CNM, but there were additional cores (f, g) and few nemaline rods (h) on EM. Scale bars 40 µm (e, f), 2 µm (g) and 1 µm (h). Lower extremity muscle MRI from another patient showing prominent hamstring involvement in the thigh (i). Scale bar 5 cm, L indicates left side