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: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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Lopes_F_2018_MYOD1 involvement in myopathy.pdf | 101,68 kB | Adobe PDF | Ver/Abrir |