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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
PLoS ONE, ISSN 1932-6203, 10/2018, Volume 13, Issue 10, pp. e0205514 - e0205514
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2014, Volume 207, Issue 1, pp. 139 - 158
Journal Article
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, ISSN 1128-2460, 12/2015, Volume 34, Issue 2-3, pp. 95 - 108
Muscle MRI has become a very useful tool in the diagnosis and follow-up of patients with muscle dystrophies. Muscle MRI provides us about many aspects of the... 
muscle MRI | Limb-girdle muscular dystrophies | Magnetic Resonance Imaging - methods | Muscular Dystrophies - diagnostic imaging | Muscular Dystrophies - pathology | Humans | Original
Journal Article
07/2010
The recent years have seen remarkable progress in the field of limb girdle muscular dystrophies (LGMDs) with the advances in immunocytochemistry and genetics.... 
limb girdle OR sarcoglycanopathy OR dysferlinopathy | Muscular dystrophies | India
Web Resource
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4103 - 4110
Journal Article
Medicine, ISSN 0025-7974, 09/2018, Volume 97, Issue 38, pp. e12506 - e12506
Limb-girdle muscular dystrophy 2L (LGMD2L) is mainly characterized by late adult onset, atrophy of proximal muscles, chronic progressive and asymmetric... 
LGMD2L | MEDICINE, GENERAL & INTERNAL | limb-girdle muscular dystrophy 2L | muscular dystrophy | next-generation sequencing | anoctamin 5 | ANO5 MUTATIONS | WEAKNESS | ANO5 | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2010, Volume 81, Issue 9, pp. 946 - 953
Journal Article