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

2012; Elsevier BV; Volume: 114; Issue: 6 Linguagem: Inglês

10.1016/j.clineuro.2011.10.040

1872-6968

Madoka Mori‐Yoshimura, Aya Okuma, Yasushi Oya, Chieko Fujimura-Kiyono, Hideto Nakajima, Keita Matsuura, Aya Takemura, May Christine V. Malicdan, Yukiko Hayashi, Ikuya Nonaka, Miho Murata, Ichizo Nishino,

Muscle Physiology and Disorders

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.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.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.These results indicate that the clinicopathological features of DNM2-CNM are rather homogeneous and can be distinguished from the features of non-DNM2-CNM.