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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Report
Acesso em linha: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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