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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
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
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 15, pp. 4103 - 4110
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2017, Volume 56, Issue 4, pp. E38 - E38
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 Neuropathology and Experimental Neurology, ISSN 0022-3069, 10/2006, Volume 65, Issue 10, pp. 995 - 1003
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
Brain, ISSN 0006-8950, 01/2011, Volume 134, Issue 1, pp. 171 - 182
The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations in the ANO5 gene, which encodes... 
PROTEIN | MYOPATHY | ACTIVATED CHLORIDE CHANNEL | NEUROSCIENCES | CLINICAL NEUROLOGY | Genetic Testing | Prevalence | Hu