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The New England Journal of Medicine, ISSN 0028-4793, 03/2011, Volume 364, Issue 10, pp. 939 - 946
A dystroglycan mutation was identified in a patient with limb-girdle muscular dystrophy and cognitive dysfunction. A mouse model with this mutation reproduced... 
Phenotype | Animals | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Humans | Dystroglycans - genetics | Female | Mice | Mutation, Missense | Sequence Analysis, DNA | Disease Models, Animal | Index Medicus | Abridged Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 29 - 41
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Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
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Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4103 - 4110
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Brain, ISSN 0006-8950, 2013, Volume 136, Issue 1, pp. 269 - 281
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