Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Christopher Mark WatsonLaura A CrinnionHelen MurphyMelanie NewbouldSally M HarrisonCarolina LascellesAgne AntanaviciuteIan M CarrEamonn SheridanDavid T BonthronAudrey Smith

Published in: Journal of medical genetics (2016)

We provide the first description of a human phenotype that appears to result from MYOD1 mutation. The presentation with FADS is consistent with a large body of data demonstrating that in the mouse, MyoD is a major controller of precursor cell commitment to the myogenic differentiation programme.

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