Young-Eun Park1, Young-Chul Choi2, Jong-Suk Bae3, Chang-Hoon Lee4, Hyang-Suk Kim5, Jin-Hong Shin6, Dae-Seong Kim6. 1. Department of Neurology, Pusan National University School of Medicine, Busan, Korea. ; Medical Research Institute, Pusan National University Hospital, Busan, Korea. 2. Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. 3. Department of Neurology, Inje University School of Medicine, Busan, Korea. 4. Medical Research Institute, Pusan National University Hospital, Busan, Korea. ; Department of Pathology, Pusan National University School of Medicine, Busan, Korea. 5. Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea. 6. Department of Neurology, Pusan National University School of Medicine, Busan, Korea. ; Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
Abstract
BACKGROUND AND PURPOSE: Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. METHODS: Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. RESULTS: We detected DNM2 mutations in four of the six sporadic CNM patients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. CONCLUSIONS: These findings suggest the presence of specific features in Korean CNM patients. A detailed clinical and pathological examination of CNM patients would be helpful for molecular genetic analyses of this condition.
BACKGROUND AND PURPOSE: Centronuclear myopathy (CNM) is characterized by the presence of central nuclei within a large number of muscle fibers. Mutations of the dynamin 2 gene (DNM2) are common causes of autosomal dominant or sporadic CNM. The aim of this study was to characterize the clinical and pathological features of CNM relative to the presence of DNM2 mutations. METHODS: Six patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. RESULTS: We detected DNM2 mutations in four of the six sporadic CNMpatients, and identified the following distinct clinical and pathological features in those patients with DNM2 mutations: preferential involvement of the distal lower limbs, typical nuclear centralization, and radially distributed sarcoplasmic strands in muscle pathology. In contrast, those without DNM2 mutations exhibited rather diffuse muscular involvement, and nuclear internalization and myofibrillar disorganization were more pronounced features of their muscle pathology. CONCLUSIONS: These findings suggest the presence of specific features in Korean CNMpatients. A detailed clinical and pathological examination of CNMpatients would be helpful for molecular genetic analyses of this condition.
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