J Clin Neurol.  2014 Jan;10(1):24-31.

Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy

Affiliations
  • 1Department of Neurology, Pusan National University School of Medicine, Busan, Korea. dskim@pusan.ac.kr
  • 2Medical Research Institute, Pusan National University Hospital, Busan, Korea.
  • 3Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • 4Department of Neurology, Inje University School of Medicine, Busan, Korea.
  • 5Department of Pathology, Pusan National University School of Medicine, Busan, Korea.
  • 6Research 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.

Keyword

centronuclear myopathy; DNM2; muscle involvement; central nuclei; internal nuclei; sarcoplasmic strands
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