2012年7月
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2
CLINICAL NEUROLOGY AND NEUROSURGERY
- 巻
- 114
- 号
- 6
- 開始ページ
- 678
- 終了ページ
- 683
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.clineuro.2011.10.040
- 出版者・発行元
- ELSEVIER SCIENCE BV
Background: Missense mutations in dynamin 2 gene (DNM2) are associated with autosomal dominant centronuclear myopathy (CNM) with characteristic histopathological findings of centrally located myonuclei in a large number of muscle fibers.Methods: To identify Japanese CNM caused by DNM2 mutations (DNM2-CNM), we sequenced DNM2 in 22 unrelated Japanese patients who were pathologically diagnosed with CNM. The clinical and pathological findings of DNM2-CNM in patients were reviewed.Results: We identified 3 different heterozygous missense mutations (p.E368K, p.R369W, and p.R465W) in 4 probands from 4 families. Clinically, calf muscle atrophy and pes cavus are features that are highly suggestive of DNM2-CNM among all CNMs. Pathologically, all 4 DNM2-CNM patients showed a radial distribution of myofibrils in scattered fibers, type 1 fiber atrophy, type 1 fiber predominance, and type 2C fibers. None of the non-DNM2-CNM patients exhibited all the 4 abovementioned pathological features, although some patients showed radial distribution without type 1 fiber atrophy and/or type 2C fibers.Discussion: These results indicate that the clinicopathological features of DNM2-CNM are rather homogeneous and can be distinguished from the features of non-DNM2-CNM. (C) 2011 Elsevier B.V. All rights reserved.
- リンク情報
- ID情報
-
- DOI : 10.1016/j.clineuro.2011.10.040
- ISSN : 0303-8467
- eISSN : 1872-6968
- PubMed ID : 22613877
- Web of Science ID : WOS:000306044900028