T1w Muscle MRI of patients with Pompe disease.

<p>We observed mild fatty infiltration in muscles of hyperCKemia patients: Tongue (Tin A), paraspinal muscles (Ps in B), lateral abdominal muscles (Ab in B) and <i>rectus abdominis</i> (RA in C) and in <i>adductor major</i> muscles (AM in D). The fatty infiltration in symptomatic patients was more evident (E-L). The muscles more commonly involved were tongue (T in E), <i>subscapularis</i> (Sc in F), <i>latissimus dorsi</i> (LD in G), the abdominal (Ab in H) and paraspinal muscles (Ps in H), the <i>Gluteus minor</i> (GMn in I), <i>medius</i> (GMe in J) and <i>maximus</i> (GMa in J), the muscles of the pelvic floor such as the <i>Externus Obturator</i> (Obt. Ext. in K), the posterior muscles of the thighs (Post in L), and the vasti muscles including <i>vastus intermedius</i> (VI in M) and <i>vastus lateralis</i> (VL in M). We observed involvement of <i>rectus femoris</i> and <i>gracillis</i> in advanced patients (RF and Gra in N). Muscles of the lower legs were commonly spared (O).</p

Effect of immunosuppressors treatment on miRNAs levels in the validation cohort.

<p>NO  =  non-treated; Cort  =  patient treated with steroids; Cort + OI  =  patient treated with steroids + other immunosuppressor agent; OI  =  patient treated with immunosuppressor agents other than steroids.</p

MG patients studied in the validation cohort.

<p>M = male; F = female; No  =  No treatment/No thymectomy; Cort  =  corticosteroids; Other immunosuppressors =  OI; Yes  =  Thymectomy.</p

Unsupervised HeatMap showing deltaCt values of the miRNA in differential levels between MG patients and controls in the discovery cohort.

<p>Delta Ct value is the difference between Ct value of the target miRNA minus Ct value of the reference small RNAs. The scale at top indicates high delta Ct values (in red shades) and low delta Ct values (in green shades). All miRNAs with a p adjusted value <0.05 are shown. Early onset MG (green), late onset MG (red), thymoma MG (blue) and healthy controls (purple).</p

Representation of score of muscle infiltration observed in T1 imaging in each muscle of every patient by heatmaps.

<p>(A) Heatmap including muscles of the head, upper limbs and trunk. (B) Heatmap including muscles of the pelvis and lower limbs. In each heatmap, patients (rows) are ordered according to hierarchical clustering with increasing grading in infiltration severity from the top to the bottom. Muscles (columns) are ordered according to dendrogram (upper part of the figures). The score of a muscle in a patient is indicated by the colour of the square in the interaction between the patient and that muscle. The darker the square, the more intense the fatty infiltration of that muscle is.</p

Effect of thymectomy on miRNAs levels in the validation cohort.

<p>YES  =  thymectomyzed MG patient; NO  =  not thymectomyzed MG patient.</p

Correlation between Muscle MRI and Functional scales.

<p>Patient 30 is a 43 years old man with mild infiltration of pelvic and lower limbs muscles with minor functional impairment. Patient 22 is a 40 years old lady with moderate involvement of trunk, pelvic and thighs muscles. She was able to perform most of her daily live activities with no major problems but her clinical examination showed moderate weakness of pelvic muscles. Patient 2 is a 48 years old lady with a severe involvement of muscle producing severe weakness and notably impairing her daily live activities.</p

miR15b, miR122, miR140-3p, miR185, miR192, miR20b and miR885-5p show low levels in sera of MG patients.

<p>No differences were found for miR375. Graphs show relative quantification of the miRNAs in the 3; EOMG  =  early onset MG; late onset MG; thymoma  =  thymoma MG; CTRL  =  healthy controls; *P<0.05; **P<0.01.</p

Correlation between MRC Score, Myometry Score, demographic data and muscle function tests.

<p>Correlation between MRC Score, Myometry Score, demographic data and muscle function tests.</p

List of patients participating in the study.

<p>List of patients participating in the study.</p