Figure 2.

MRI (T₁-weighted) of lower extremities in filaminopathy patients (first row: proximal upper legs, second row: distal upper legs, third row: lower legs). (A and C) Patients with p.V930_T933del mutation in FLNC (A: a 48-year-old male, disease duration 10 years; C: a 45-year-old female, disease duration 10 years). (B and D) Patients harbouring the p.W2710X mutation in FLNC (B: a 58-year-old male, disease duration 13 years; D: a 54-year-old female, disease duration 5 years). Hyperintensities in muscles denote lipomatous alterations. The relative involvement of marked muscles is important for separation of filaminopathy from other myofibrillar myopathy subtypes. AM = adductor magnus; BF = biceps femoris; GR = gracilis; LG = lateral gastrocnemius; MG = medial gastrocnemius; PG = peroneal group muscles; SA = sartorius; SM = semimembranosus; ST = semitendinosus; TA = tibialis anterior.