Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2

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• 作者：Madoka Mori-Yoshimura^a ; Aya Okuma^b ; Yasushi Oya^a ; Chieko Fujimura-Kiyono^c ; Hideto Nakajima^c ; Keita Matsuura^d ; Aya Takemura^a ; May Christine V. Malicdan^b ; Yukiko K. Hayashi^b ; Ikuya Nonaka^b ; Miho Murata^a ; Ichizo Nishino^b ; ^{nishino@ncnp.go.jp}
• 关键词：Centronuclear myopathy ; Dynamin 2 ; Congenital myopathy ; Radial distribution ; Clinicopathological homology
• 刊名：Clinical Neurology and Neurosurgery
• 出版年：2012
• 期刊代码：60_03038467
• 类别：med
• 出版时间：July, 2012
• 卷：114
• 期：6
• 页码：678-683
• 文件大小：1050 K

摘要

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.