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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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2017
Gaiak:
Report
Sarrera elektronikoa: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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