T1 weighted MRI images of thighs and legs from 3 FSHD1 patients illustrating three different patterns of muscular involvement.

<p>(a): a normal appearing imaging pattern, (b): a selective muscle involvement pattern; (c): global fatty infiltration pattern with selective muscle sparing</p

Examples of MR images.

<p>Examples of a successful automated segmentation in a control subject (a) and two patients (b and c). Examples of MR images with manual correction of the segmentation process (d).</p

Steps of the automated segmentation algorithm.

<p>Steps of the automated segmentation algorithm.</p

Fat fraction (%) in FSHD1 patients and healthy volunteers.

<p>***: p<0.001.</p

Mean visual scores for the fatty infiltration in each muscle of the lower limb.

<p>a: Thigh muscles for the whole group of patients, b: thigh muscles for T1 sub group, c: thigh muscles for T2 sub group, d: thigh muscles for T3 sub group, e: leg muscles for the whole group of patients, f: leg muscles for L1 sub group, g: leg muscles for L2 sub group, h: the leg muscles for L3 sub group. Legs: GL = Gastrocnemius lateralis, GM = Gastrocnemius medialis, P = Peroneus, S = Soleus, TA = Tibialis anterior, TP = Tibialis posterior. Thighs: ADD = Adductors; BF = Biceps Femoris; G = Gracilis; R = Rectus Femoris, S = Sartorius, SMM = Semimembranosus, SMT = Semitendinosus, VI = Vastus intermediaris, VL = Vastus lateralis, VM = Vastus medialis.</p

Correlation of intramuscular fat fraction with mean visual score of muscular fatty infiltration.

<p>A: Correlation between the mean visual score of the thighs and the intramuscular fat fraction. B: Correlation between the mean visual score of the thighs and the Log of the intramuscular fat fraction.</p

Additional file 2: Figure S1. of Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Correlation of serum TTR knockdown with change from baseline in serum vitamin A and RBP. RBP: retinol binding protein; TTR: transthyretin. (DOCX 235 kb

Additional file 1: of Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study

Supplemental materials. (DOCX 36 kb

Patient selection of DM-Scope registry.

<p>Patient selection of DM-Scope registry.</p