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1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM).

Authors :
Gika, A.D.
Lillis, S.
Cullup, T.
Bodi, I.
Manta, P.
Pons, R.
Yatrakou, E.
Karachristou, K.
Tzeti, M.
Youroukos, S.
Muntoni, F.
Abbs, S.
Jungbluth, H.
Source :
European Journal of Paediatric Neurology; May2011 Supplement 1, Vol. 15, pS13-S13, 1p
Publication Year :
2011

Details

Language :
English
ISSN :
10903798
Volume :
15
Database :
Supplemental Index
Journal :
European Journal of Paediatric Neurology
Publication Type :
Academic Journal
Accession number :
61159726
Full Text :
https://doi.org/10.1016/S1090-3798(11)70051-4