MYOD1 involvement in myopathy

[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...

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Bibliographic Details
Main Author: Lopes, Fátima Daniela Teixeira (author)
Other Authors: Miguet, M. (author), Mucha, B. E. (author), Gauthier, J. (author), Saillour, V. (author), Nguyen, C.-T. É. (author), Vanasse, M. (author), Ellezam, B. (author), Michaud, J. L. (author), Soucy, J.-F. (author), Campeau, P. M. (author)
Format: letterToTheEditor
Language:eng
Published: 2018
Subjects:
Myogenic Differentiation 1
Myopathy
Respiratory insufficiency
Science & Technology
Online Access:http://hdl.handle.net/1822/57870
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/57870
Description
Summary:[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].[...]

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