Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
oleh: Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte
| Format: | Article |
|---|---|
| Diterbitkan: | BMC 2018-09-01 |
Deskripsi
Subjek
DNM2; MTM1; Congenital myopathy; Centronuclear myopathy; Hypotonia