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Describe the spectrum of whole body muscle involvement in patients with a myopathy due to mutations of SEPN1 (SEPN1-RM) using whole body MRI (WBMRI).Nine patients with SEPN1-RM were studied. T1-TSE weighted images were reviewed to assess 107 muscles with respect to their signal and volume.Patients showed selective signal abnormalities in axial and pelvic muscles including neck extensors, thoracic...
Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN). Outside Japan, FKTN mutations have only been reported in a few patients with a wide spectrum of phenotypes from Walker–Warburg syndrome to limb-girdle muscular dystrophy (LGMD2M). We studied four new Caucasian patients from three unrelated families. All showed raised serum CK initially...
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