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M.P.4.11 Extension of the clinical spectrum of Danon’s disease. A novel missense mutation in the splice variant B of the LAMP2 gene leads to myopathy, with mild cardiac abnormalities, retinopathy and no evident mental retardation
A. van der Kooi, E. Aronica, P. van Doorn, J. Wokke, I. van Langen, C. Langerhorst, R. Lekanne dit Deprez, L. Dekker, M. de VisserVolume:
17
Year:
2007
Language:
english
DOI:
10.1016/j.nmd.2007.06.337
File:
PDF, 47 KB
english, 2007