Concepedia

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Nigel F. Clarke, Svetlana Maugenre, Aurélie Vandebrouck, J. Andoni Urtizberea, Tobias Willer, Rachel A. Peat, Françoise Gray, C Bouchet, Hiroshi Manya, Sandrine Vuillaumier‐Barrot,

European Journal of Human Genetics · 2011 · 55 citations · 17 references

DOI

Concepts

References

17

Membrane organization of the dystrophin-glycoprotein complex

James M. Ervasti, Kevin P. Campbell · Cell · 1991 · 1.3K citations

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Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Daniel E. Michele, Rita Barresi, Motoi Kanagawa et al. · Nature · 2002 · 798 citations

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Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki et al. · Genome Research · 2005 · 506 citations · Full text

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Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

C. Godfrey, Emma Clement, R. Mein et al. · Brain · 2007 · 440 citations · Full text

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

Cheryl Longman · Human Molecular Genetics · 2003 · 416 citations · Full text

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