A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.

•We search for doublecortin expression in the motor system in mice.•We found that doublecortin is expressed in motor neurons and muscle.•Defects in neuromuscular junction formation were observed in mutant mice.•We report the case of a patient with a doublecortin mutation.•In this patient, neuromuscular junctions are abnormal.