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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

✍ Scribed by A. van der Kooi; E. Aronica; P. van Doorn; J. Wokke; I. van Langen; C. Langerhorst; R. Lekanne dit Deprez; L. Dekker; M. de Visser


Book ID
116793185
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
47 KB
Volume
17
Category
Article
ISSN
0960-8966

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