Article
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
American journal of human genetics - 5 Jan 2017
Miyatake Satoko, Mitsuhashi Satomi, Hayashi Yukiko K, Purevjav Enkhsaikhan, Nishikawa Atsuko, Koshimizu Eriko, Suzuki Mikiya, Yatabe Kana, Tanaka Yuzo, Ogata Katsuhisa, Kuru Satoshi, Shiina Masaaki, Tsurusaki Yoshinori, Nakashima Mitsuko, Mizuguchi Takeshi, Miyake Noriko, Saitsu Hirotomo, Ogata Kazuhiro, Kawai Mitsuru, Towbin Jeffrey, Nonaka Ikuya, Nishino Ichizo, Matsumoto Naomichi
Abstract excerpt
Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle disease characterized by muscular weakness of proximal dominance, hypotonia, and respiratory insufficiency but typically not cardiac dysfunction. Wide variation in severity has been reported. Intranuclear rod myopathy is a subtype of NM in which rod-like bodies are seen in the nucleus, and it often manifests as a severe phenotype....
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