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TitleMYOD1 involvement in myopathy
Author(s)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.
KeywordsMyogenic Differentiation 1
Respiratory insufficiency
Issue dateDec-2018
PublisherEuropean Academy of Neurology (EAN)
JournalEuropean Journal of Neurology
Abstract(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].[...]
AccessembargoedAccess (1 Year)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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