contributed equally to this work.
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies†
Article first published online: 4 APR 2012
© 2012 Wiley Periodicals, Inc.
Special Issue: Focus on CNV Detection with Diagnostic Arrays
Volume 33, Issue 6, pages 981–988, June 2012
How to Cite
Klein, A., Lillis, S., Munteanu, I., Scoto, M., Zhou, H., Quinlivan, R., Straub, V., Manzur, A. Y., Roper, H., Jeannet, P.-Y., Rakowicz, W., Jones, D. H., Jensen, U. B., Wraige, E., Trump, N., Schara, U., Lochmuller, H., Sarkozy, A., Kingston, H., Norwood, F., Damian, M., Kirschner, J., Longman, C., Roberts, M., Auer-Grumbach, M., Hughes, I., Bushby, K., Sewry, C., Robb, S., Abbs, S., Jungbluth, H. and Muntoni, F. (2012), Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum. Mutat., 33: 981–988. doi: 10.1002/humu.22056
Communicated by Jürgen Horst
- Issue published online: 7 MAY 2012
- Article first published online: 4 APR 2012
- Accepted manuscript online: 21 FEB 2012 12:17PM EST
- Manuscript Accepted: 7 FEB 2012
- Manuscript Received: 18 NOV 2011
- Guy's & St Thomas' Charity (to H.J.; #G070404); National Commissioning Group (to Dubowitz Neuromuscular Centre for Congenital Muscular Dystrophies and Congenital Myopathies); Muscular Dystrophy Campaign (to Dubowitz Neuromuscular Centre); Medical Research Council MRC (to the Neuromuscular Biobank at UCL). FM was supported by Great Ormond Street Hospital Children's Charity and the Muscular Dystrophy Association MDA (to F.M. and I.M.); the Austrian Science Fond (to M.AG; FWF, P23223-B19)
Vol. 33, Issue 8, 1310, Article first published online: 13 JUL 2012
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