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NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 04/2014, Volume 24, Issue 4, pp. 312 - 320
Mutations in POMT1 lead to a group of neuromuscular conditions ranging in severity from Walker Warburg syndrome to limb girdle muscular dystrophy. We report... 
Dystroglycanopathy | ALPHA-DYSTROGLYCAN | LOSS-OF-FUNCTION | DEFECTIVE GLYCOSYLATION | MENTAL-RETARDATION | WALKER-WARBURG-SYNDROME | NEUROSCIENCES | CLINICAL NEUROLOGY | POMTI | ABNORMAL GLYCOSYLATION | GENE | Congenital muscular dystrophy | Protein O-mannosylation | MANNOSE | DISORDER | Limb girdle muscular dystrophy | ISPD | Walker-Warburg syndrome
Journal Article
Journal of Clinical Neuromuscular Disease, ISSN 1522-0443, 06/2010, Volume 11, Issue 4, pp. 203 - 208
Journal Article
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article
Journal of Clinical Neuromuscular Disease, ISSN 1522-0443, 06/2010, Volume 11, Issue 4, pp. 203 - 208
Journal Article
Nervno-Myšečnye Bolezni, ISSN 2222-8721, 02/2015, Issue 2, pp. 39 - 44
A comparative analysis of the frequency of occurrence of 36 clinical symptoms in the three groups of patients with LGMD 2A and LGMD 2Itypes and LGMD those... 
2I type | FKRP | 2A type | genes CAPN3 | calpain 3 | contractures of large joints | fukutin-related protein | psevdogipertrofii calf muscles | medical and genetic counseling | limb-girdle muscular dystrophy
Journal Article
Muscle & Nerve, ISSN 0148-639X, 01/2017, Volume 55, Issue 1, pp. 55 - 68
Journal Article
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 | Index Medicus | Abridged Index Medicus
Journal Article
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 12/2015, Volume 74, Issue 12, pp. 1137 - 1146
ABSTRACTLimb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the Fukutin-related protein (FKRP) gene, leading to inadequate glycosylation... 
Fukutin-related protein | Knock-in | α-Dystroglycan | Knockout | Limb-girdle muscular dystrophy type 2I | Myopathy | Dystroglycan | ALPHA-DYSTROGLYCAN | MDX MOUSE |