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Human Mutation, ISSN 1059-7794, 11/2013, Volume 34, Issue 11, pp. 1449 - 1457
Journal Article
Human Mutation, ISSN 1059-7794, 04/2015, Volume 36, Issue 4, pp. 395 - 402
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 04/2019, Volume 29, Issue 4, pp. 341 - 341
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2019, Volume 29, Issue 2, pp. 152 - 156
Journal Article
Neuromuscular disorders : NMD, 11/2018
Journal Article
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
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 10, pp. 987 - 996
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2012, Volume 44, Issue 10, pp. 1080 - 1083
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 07/2019, Volume 14, Issue 1, pp. 179 - 17
Journal Article
Acta Myologica, ISSN 1128-2460, 2013, Volume 32, Issue 3, pp. 138 - 141
The Mediterranean countries are distinguished with their peculiar genetic pool and diversities. Recessive diseases often present with their own founder... 
Mediterranean area | Frequency | Muscular dystrophies | Incidence | Muscular Dystrophies - epidemiology | Humans | Risk Factors | Age of Onset | Female | Male | Consanguinity | Mediterranean Region | Mutation | Muscular Dystrophies - genetics | muscular dystrophies | Original | incidence
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2017, Volume 377, Issue 18, pp. 1723 - 1732
Journal Article