Figure 1.

(A) Pedigree of the family. The squares indicate male patients and the circles indicate female patients. The half-filled symbols indicate affected patients (including the proband) and the empty symbols indicate unaffected healthy individuals. The arrow points to the proband. (B) Muscle magnetic resonance imaging of the proband showed severe involvement of adductor magnus, thigh muscles (biceps femoris, semimembranosus and semitendinosus) and calf muscles (gastrocnemius and soleus). (C) Hypertrophy of gracilis was identified. (D) Normal appearance of the rectus femoris, quadriceps femoris and sartorius of thigh muscles, was identified. (E) Normal appearance of tibialis anterior, tibialis posterior and extensor digitorum longus of calf muscles was found. (F-K) Muscle biopsy of the proband, (F) H&E, (G) NADH, (H) caveolin-3, (I) Dys, (J) α-sarcoglycan and (K) β-sarcoglycan staining. Total magnification, x200. (L) Partial DNA sequences in the CAPN3 gene [NM_000070], as determined by Sanger sequencing of the proband, their younger sister and parents. Arrows point to the mutation. CAPN3, calpain 3; H&E, hematoxylin and eosin; NADH, nicotinamide adenine dinucleotide dehydrogenase; Dys, dystrophin.