Fig. 1: Clinical presentation and muscle magnetic resonance image (MRI) of patient 19.
From: Genotype–phenotype correlations in recessive titinopathies
Patient 19 at neonatal age displaying multiple joint contractures in hyperextension involving hands and feet (a, b). Lower limb T1-weighted MRIs of patient 19 at age 7 (c, d). At thigh level (c), a prominent involvement of semitendinosus and vasti was detected. Adductor magnus and rectus femori were relatively spared with focal areas of complete intramuscular fat replacement. In the lower leg (d), soleus, gastrocnemius medialis, and peronei muscles were involved, while tibialis anterior showed only focal changes.
