Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Author(s):
Koutsopoulos, O.S.; Kretz, C.; Weller, C.M.; Roux, A.; Mojzisova, H.; Bohm, J.; Koch, C.; Toussaint, A.; Heckel, E.; Stemkens, D.; Horst, S.A.J. ter; Thibault, C.; Koch, M.; Mehdi, S.Q.; Bijlsma, E.K.; Mandel, J.L.; Vermot, J.; Laporte, J.
Published
2013
Publication type
Article / Letter to editor
DNM2dynamincentronuclear myopathyCharcot-Marie-Toothfetal akinesia deformation sequenceendocytosis
Date issued
2013-06-30
Language
English
Is part of
European Journal of Human Genetics (2013), Vol. 21, no. 6, p. 637-642
hdl
1887/101786
doi
10.1038/ejhg.2012.226