Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.
- Author:
Young Eun PARK
1
;
Young Chul CHOI
;
Jong Suk BAE
;
Chang Hoon LEE
;
Hyang Suk KIM
;
Jin Hong SHIN
;
Dae Seong KIM
Author Information
- Publication Type:Original Article
- Keywords: centronuclear myopathy; DNM2; muscle involvement; central nuclei; internal nuclei; sarcoplasmic strands
- MeSH: Dynamin II; Humans; Lower Extremity; Molecular Biology; Muscles; Myopathies, Structural, Congenital*; Pathology
- From:Journal of Clinical Neurology 2014;10(1):24-31
- CountryRepublic of Korea
- Language:English
- 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.
