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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Am J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2017
Témata:
Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky