Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

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Description scientific article (publication date: November 2003)
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author: Francesco Muntoni  Cecilia Jimenez-Mallebrera  Martin Brockington  Luciano Merlini  Sue Brown 

Publication date November 1, 2003
Language English
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