Clinical and pathological features of Korean patients with DNM2-related centronuclear myopathy

Young Eun Park, Young Chul Choi, Jong Suk Bae, Chang Hoon Lee, Hyang Suk Kim, Jin Hong Shin, Dae Seong Kim

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background and PurposezzCentronuclear 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. MethodszzSix patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. ResultszzWe 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. ConclusionszzThese 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.

Original languageEnglish
Pages (from-to)24-31
Number of pages8
JournalJournal of Clinical Neurology (Korea)
Volume10
Issue number1
DOIs
Publication statusPublished - 2014 Jan 1

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Dynamin II
Congenital Structural Myopathies
Mutation
Genes
Muscles
Pathology
Muscular Diseases
Molecular Biology
Lower Extremity

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Park, Young Eun ; Choi, Young Chul ; Bae, Jong Suk ; Lee, Chang Hoon ; Kim, Hyang Suk ; Shin, Jin Hong ; Kim, Dae Seong. / Clinical and pathological features of Korean patients with DNM2-related centronuclear myopathy. In: Journal of Clinical Neurology (Korea). 2014 ; Vol. 10, No. 1. pp. 24-31.
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abstract = "Background and PurposezzCentronuclear 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. MethodszzSix patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. ResultszzWe 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. ConclusionszzThese 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.",
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Clinical and pathological features of Korean patients with DNM2-related centronuclear myopathy. / Park, Young Eun; Choi, Young Chul; Bae, Jong Suk; Lee, Chang Hoon; Kim, Hyang Suk; Shin, Jin Hong; Kim, Dae Seong.

In: Journal of Clinical Neurology (Korea), Vol. 10, No. 1, 01.01.2014, p. 24-31.

Research output: Contribution to journalArticle

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AU - Park, Young Eun

AU - Choi, Young Chul

AU - Bae, Jong Suk

AU - Lee, Chang Hoon

AU - Kim, Hyang Suk

AU - Shin, Jin Hong

AU - Kim, Dae Seong

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N2 - Background and PurposezzCentronuclear 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. MethodszzSix patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. ResultszzWe 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. ConclusionszzThese 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.

AB - Background and PurposezzCentronuclear 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. MethodszzSix patients with clinical and pathological features of CNM were recruited. Detailed clinical and pathological findings were analyzed according to the presence of DNM2 mutations. ResultszzWe 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. ConclusionszzThese 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.

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