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Figure 1 Genetic profile of 90 patients with dysferlin deficiency

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1 Figure 1 Genetic profile of 90 patients with dysferlin deficiency
Genetic profile of 90 patients with dysferlin deficiency DYSF mutations were identified in a total of 63 patients (70%). Nine patients (10%) were diagnosed with CAPN3 mutations. Of the 90 patients, 38 and 41 manifested as distal myopathy (DM) and limb-girdle muscular dystrophy (LGMD), respectively, and the remaining 11 were unclassifiable. The genetic profiles for each manifestation are also shown. The proportion of DYSF mutations was more frequent for the DM phenotype (76%) than for the LGMD phenotype (63%), whereas CAPN3 mutations were more frequent in the LGMD phenotype (15%) than in the DM phenotype (5%). Rumiko Izumi et al. Neurol Genet 2015;1:e36 © 2015 American Academy of Neurology

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