Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data |
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| Authors: | Courtney R. Carlson BS Steven A. Moore MD PhD Katherine D. Mathews MD |
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| Affiliation: | 1. University of Iowa Carver College of Medicine, Iowa City, Iowa, USA;2. Department of Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA;3. Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA |
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| Abstract: | Introduction: Comprehensive genetic testing for dystrophinopathy can detect ～95% of pathogenic variants in the dystrophin gene (DMD) and is often the preferred diagnostic approach. Methods: We reviewed pathology reports for muscle biopsies evaluated at the University of Iowa with a pathological diagnosis of dystrophinopathy based on dystrophic histopathology and abnormal immunofluorescence staining: reduced to absent dystrophin, expression of utrophin, and loss of neuronal nitric oxide synthase. Results: The percentage of muscle biopsies with dystrophinopathy has been stable since 1997. Among 2,298 biopsies evaluated between 2011 and 2016, 72 (3.1%) had pathologic features of dystrophinopathy. Median age at biopsy was 8 years (range, 0.66–84). Half had undergone DMD genetic testing prior to biopsy. Clinical phenotypes recorded on requisitions were typical of muscular dystrophy for 57 (79%) biopsies. Discussion: Muscle biopsy continues to play an important role in the diagnosis of dystrophinopathy, particularly in patients with later symptom onset, comorbidities, or normal DMD genetic testing results. Muscle Nerve 58 : 148–152, 2018 |
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| Keywords: | Duchenne‐Becker muscular dystrophy diagnosis dystrophinopathy indication muscle biopsy pathology |
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