| 1 | CDG1M, DOLK
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| Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
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| Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G.
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| Mol Genet Metab ol Genet Metab. 2013 Jul 10. doi:pii: S1096-7192(13)00227-8. 10.1016/j.ymgme.2013.07.002. [Epub ahead of print]
2013
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| 2 | CDG1M, DOLK
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| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
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| Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA.
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| PLoS Genet 7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.
2011
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| 3 | CDG1M, DOLK
|
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
|
| Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA.
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| PLoS Genet 7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.
2011
|