지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 24 - 31 (8page)
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초록· 키워드
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Background and Purpose Centronuclear myopathy (CNM) is characterized by the presenceof 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. Detailedclinical 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 identifiedthe 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 mutationsexhibited 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.
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참고문헌 (19)
참고문헌 신청
Bevilacqua JA / 2009 / “Necklace” fibers, a new histological marker of lateonset MTM1-related centronuclear myopathy / Acta Neuropathol 117 : 283 ~ 291
Bitoun M / 2005 / Mutations in dynamin 2 cause dominant centronuclear myopathy / Nat Genet 37 : 1207 ~ 1209
Bitoun M / 2007 / Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset / Ann Neurol 62 : 666 ~ 670
Bitoun M / 2009 / Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis / Hum Mutat 30 : 1419 ~ 1427
Bohm J / 2012 / Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy / Hum Mutat 33 : 949 ~ 959
Bitoun M / 2005 / Mutations in dynamin 2 cause dominant centronuclear myopathy / Nat Genet 37 : 1207 ~ 1209
Bitoun M / 2007 / Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset / Ann Neurol 62 : 666 ~ 670
Bitoun M / 2009 / Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis / Hum Mutat 30 : 1419 ~ 1427
Bohm J / 2012 / Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy / Hum Mutat 33 : 949 ~ 959
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