Cited 7 times in

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

Authors
 Young-Eun Park  ;  Young-Chul Choi  ;  Jong-Suk Bae  ;  Chang-Hoon Lee  ;  Hyang-Suk Kim  ;  Jin-Hong Shin  ;  Dae-Seong Kim 
Citation
 JOURNAL OF CLINICAL NEUROLOGY, Vol.10(1) : 24-31, 2014 
Journal Title
JOURNAL OF CLINICAL NEUROLOGY
ISSN
 1738-6586 
Issue Date
2014
Keywords
DNM2 ; central nuclei ; centronuclear myopathy ; internal nuclei ; muscle involvement ; sarcoplasmic strands
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.
Files in This Item:
T201400371.pdf Download
DOI
10.3988/jcn.2014.10.1.24
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/98164
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links