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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
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4103 - 4110
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Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2010, Volume 81, Issue 9, pp. 946 - 953
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Journal of Cell Biology, ISSN 0021-9525, 2014, Volume 207, Issue 1, pp. 139 - 158
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Journal of Neuropathology and Experimental Neurology, ISSN 0022-3069, 10/2006, Volume 65, Issue 10, pp. 995 - 1003
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Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2017, Volume 56, Issue 4, pp. E38 - E38
Journal Article