Figure 1
From: Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies

Pedigree of the family with four siblings affected by Miyoshi myopathy/dysferlinopathy (MMD) and phenotypic characteristics of selected patients. (A) Affected individuals are compound heterozygotes carrying mutations c.4076 T > C and c.2864 + 1dupG in the gene DYSF encoding for dysferlin. The arrow refers to the index case. (B) A prominent atrophy of the calves and muscles of the lower limbs is characteristic of MMD (index patient F: III). (C) Transversal T2 MRI (upper panel; patient F: VII) depicting the symmetrical pathological signal corresponding to a combined interstitial edema and fat remodeling in muscles of both thighs except musculus gracilis, with minimal damage (left) to m. sartorius and partial damage to m. semitendinosus. T2 MRI with the fat signal suppression (lower panel; patient F: VII) hallmarked with fatty remodeling of the muscles with a maximum in the lateral vastus of both m. quadriceps. In the vastus medialis dexter and both m. adductor magnus, there are visible edematous infiltrations (hyperintense zones).