A
B
A
*
B*
A B
1
*3
R L
*2
R L
E-figure 2. MRI of lower limbs in patient IV-1 of pedigree A
Panel 1: MRI of thigh muscles. A: Spin-Echo T1-weighted transverse image (TR475 msec; TE 20 msec;
thickness 5 mm; B: TIRM T2-weighted transverse image (TR 8520 msec; TE 122 msec; TI 160 msec;
thickness 5 mm). All muscles had normal morphology and signals. Panel 2: MRI of calf muscles, Spin-
Echo T1-weighted transverse images. R = right; L = left. An asterisk marks the anterior tibial muscles.
Wasting of the anterior tibial muscles is more evident on the right side. Panel 3: MRI of calf muscles,
TIRM T2-weighted transverse images. Both the anterior tibial muscles (asterisk) and right medial
gastrocnemius muscle (arrows) showed hyperintensities signals indicating degeneration.