Article
Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
Clinical neurology and neurosurgery - 1 Jul 2012
Mori-Yoshimura Madoka, Okuma Aya, Oya Yasushi, Fujimura-Kiyono Chieko, Nakajima Hideto, Matsuura Keita, Takemura Aya, Malicdan May Christine V, Hayashi Yukiko K, Nonaka Ikuya, Murata Miho, Nishino Ichizo
Abstract excerpt
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...
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