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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2017
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Online Zugang: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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