Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy

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 myopath...

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發表在:Am J Hum Genet
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Elsevier 2017
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223057/
https://ncbi.nlm.nih.gov/pubmed/28017374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.017
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