Fig. 1

Muscle imaging in a series of TCAP gene-related limb girdle muscular dystrophy patients: schematic diagram (a, b, and c) and muscle imaging (d, e, f, g, h, i, j, k, l, m, n, o, p, q, r, s, t, u, v, w, and x). Schematic diagram of the pelvis (a), thighs (b), and legs (c) representing a summary of muscle imaging pattern of telethoninopathy in this series from complete muscle fat replacement (white) to normal muscle (dark gray): calf volume increase, early gluteus maximus (Gmax) muscle fat replacement, followed by gluteus medius (Gmed), and gluteus minimus (Gmin), asymmetric (worse in the right side); tibialis anterior (Ta), adductor magnus (AdM), adductor longus (AdL), semitendinosus (St), biceps femoris (Bf), semimembranosus (Sm), vastus lateralis (VL), rectus femoris (Rf), vastus medialis (Vmed), vastus intermedius (Vi), soleus (So), peroneus group (P), extensor group (E), tibialis posterior (Tp), gastronemius lateralis (Gl), asymmetric gastronemius medialis (Gm), with compensatory hypertrophy of sartorius (S) and gracilis (G). Muscle imaging of the pelvis (d, g, j, m, p, s, and v), thighs (e, h, k, n, q, t, and w) and legs (f, i, l, o, r, u, and x) of patient 1 (d, e, and f), patient 2 (g, h, and i), patient 3 (j, k, and l), patient 4 (m, n, and o), patient 5 (p, q, and r), patient 6 (s, t, and u), and patient 7 (v, w, and x). Patient 1 (d, e, and f) at 14 years old, with 14 years duration of disease, presented only slight right glutei atrophy (d). Patient 2 (g, h, and i) at 6 years old, with 3 years duration of disease, presented subtle sparse areas of muscle fat replacement. Patient 3 (j, k, and l) at 22 years old, with 7 years of duration of disease, presented moderate asymmetry of the glutei, smaller on the right side (arrow in j), and severe atrophy of vastus lateralis (arrow head in k). Patient 4 (m, n, and o) at 24 years old, with 7 years of duration of disease presented asymmetric muscle fat replacement of semitendinosus severe at the right side and slight at the left side (arrow in n), and atrophy and muscle fat replacement of the left gastrocnemius medialis (arrow head in o), and peroneus muscles fat replacement severe in the left side (* in o). Patient 5 (p, q, and r) at 32 years old, with 12 years of duration of disease, presented moderate gastrocnemius medialis fat replacement severe in the right side, slight in the left side (arrow head in r), and peroneus fat replacement severe in the left side (* in r). Patient 6 (s, t, and u) at 35 years old, with 20 years of duration of disease, presented asymmetric preservation of the right tibialis posterior (arrow head in u), and left peroneus (* in u). Patient 7 (v, w, and x) at 54 years old, with 46 years duration of disease, presented asymmetric muscle fat replacement of gastrocnemius lateralis, less severe at the left side (arrow head in x). Patient 1 (d, e, and f), patient 3 (j, k, and l), patient 4 (m, n, and o), and patient 6 (s, t, and u) were submitted to Axial T1-weighted magnetic resonance imaging (MRI) of the pelvis, thighs and legs. Patient 2 (g, h, and i), patient 5 (p, q, and r), and patient 7 (v, w, and x) were submitted to computed tomography (CT); yo: years old