An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED

 

1-s2.0-S0303846718300131-gr1_lrg

Fig. 1Thigh muscle MRI in T1 sequence of patient 2. We observed a fat replacement mainly in the rectus femoris, the vastus lateralis and the vastus medialis, the sartorius and the long head of the biceps femoris muscles. We also observe a hypertrophy of the adductor magnus muscle, as seen in other patients with BICD2 variants.