DOI:
10.1055/s-00000041
Neuropediatrics
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References
Longman C, Brockington M, Torelli S. , et al.
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.
Hum Mol Genet 2003;
12 (21) 2853-2861
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