Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/57870| Título: | MYOD1 involvement in myopathy |
| Autor(es): | Lopes, Fátima Daniela Teixeira Miguet, M. Mucha, B. E. Gauthier, J. Saillour, V. Nguyen, C.-T. É. Vanasse, M. Ellezam, B. Michaud, J. L. Soucy, J.-F. Campeau, P. M. |
| Palavras-chave: | Myogenic Differentiation 1 Myopathy Respiratory insufficiency |
| Data: | Dez-2018 |
| Editora: | European Academy of Neurology (EAN) |
| Revista: | European Journal of Neurology |
| Resumo(s): | [Excerpt] Introduction Myogenic Differentiation 1 (MYOD1) encodes a transcription factor that plays an important role in myogenic determination into mature skeletal muscle [1]. The first loss-of-function mutation of MYOD1 in humans was described in three siblings with perinatal lethal fetal akinesia [2].[...] |
| Tipo: | Carta ao editor |
| URI: | https://hdl.handle.net/1822/57870 |
| DOI: | 10.1111/ene.13782 |
| ISSN: | 1351-5101 |
| e-ISSN: | 1468-1331 |
| Arbitragem científica: | yes |
| Acesso: | Acesso aberto |
| Aparece nas coleções: |
Ficheiros deste registo:
| Ficheiro | Descrição | Tamanho | Formato | |
|---|---|---|---|---|
| Lopes_F_2018_MYOD1 involvement in myopathy.pdf | 101,68 kB | Adobe PDF | Ver/Abrir |
