Clinical and Pathological Features of Korean Patients with DNM2-Related Centronuclear Myopathy.
OBJECTIVE
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.
Department of Neurology, Pusan National University School of Medicine, Busan, Korea. ; Medical Research Institute, Pusan National University Hospital, Busan, Korea.
Young-Eun
YE
Park
Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Young-Chul
YC
Choi
Department of Neurology, Inje University School of Medicine, Busan, Korea.
Jong-Suk
JS
Bae
Medical Research Institute, Pusan National University Hospital, Busan, Korea. ; Department of Pathology, Pusan National University School of Medicine, Busan, Korea.
Chang-Hoon
CH
Lee
Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea.
Hyang-Suk
HS
Kim
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.
Jin-Hong
JH
Shin
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.
Dae-Seong
DS
Kim
DNM2; central nuclei; centronuclear myopathy; internal nuclei; muscle involvement; sarcoplasmic strands