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Patient with limb girdle dystrophy presenting with dopa-responsive dystonia - a case report, 12/2003
Dopa-responsive dystonias are rare. We report a 14-year-old male who was diagnosed as a case of limb girdle dystrophy and had features suggestive of... 
Dopa-responsive dystonia, Limb girdle dystrophy
Journal
Physiological genomics, ISSN 1094-8341, 11/2018, Volume 50, Issue 11, pp. 929 - 939
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps... 
CG10721 | exome sequencing | PYROXD1 | limb-girdle muscular dystrophy
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 11/2017, Volume 11, Issue 11, pp. QJ01 - QJ02
Journal Article
07/2010
The increasing knowledge about limb girdle muscular dystrophy (LGMD) has clarified many aspects of this extensive group of neuromuscular conditions and has... 
Diagnosis | limb girdle muscular dystrophies
Web Resource
Nature, ISSN 0028-0836, 03/2013, Volume 495, Issue 7442, pp. 467 - 473
Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with... 
RNA-BINDING PROTEINS | DROSOPHILA MODEL | TDP-43 | MULTIDISCIPLINARY SCIENCES | FRONTOTEMPORAL DEMENTIA | VCP MUTATIONS | DISEASE | AMYOTROPHIC-LATERAL-SCLEROSIS | SACCHAROMYCES-CEREVISIAE | STRESS GRANULES | MULTIPLE ALIGNMENT | Prions - genetics | Humans | Molecular Sequence Data | Osteitis Deformans - metabolism | Male | Drosophila melanogaster - genetics | Osteitis Deformans - genetics | Drosophila melanogaster - metabolism | Frontotemporal Dementia - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Myositis, Inclusion Body - pathology | Female | Inclusion Bodies - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - genetics | Frontotemporal Dementia - pathology | RNA - metabolism | Frontotemporal Dementia - genetics | Amino Acid Sequence | Prions - metabolism | Peptide Termination Factors - genetics | Amyotrophic Lateral Sclerosis - genetics | Drosophila melanogaster - cytology | Mutant Proteins - genetics | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - metabolism | Mutant Proteins - metabolism | Protein Structure, Tertiary - genetics | Prions - chemistry | Saccharomyces cerevisiae Proteins - genetics | Mutation - genetics | Myositis, Inclusion Body - genetics | Peptide Termination Factors - metabolism | Amyotrophic Lateral Sclerosis - pathology | Inclusion Bodies - genetics | Osteitis Deformans - pathology | Animals | Heterogeneous-Nuclear Ribonucleoprotein Group A-B - chemistry | Muscular Dystrophies, Limb-Girdle - metabolism | Mutant Proteins - chemistry | Amyotrophic Lateral Sclerosis - metabolism | Saccharomyces cerevisiae Proteins - metabolism | Inclusion Bodies - pathology | Myositis, Inclusion Body - metabolism | Mice | Peptide Termination Factors - chemistry | HeLa Cells | Saccharomyces cerevisiae Proteins - chemistry | Pathology | Insects | Genomics | Genetics | Software | Genomes | Mutation | Genetic testing | Patients
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
Journal of the Neurological Sciences, ISSN 0022-510X, 11/2018, Volume 394, pp. 63 - 67
Sarcoglycanopathies (LGMD 2C 2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a... 
Immunohistochemistry | Sarcoglicanopathies | SGCA | Next generation sequencing | Western-blot | Limb-girdle muscular dystrophies | SARCOGLYCAN GENE | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Molecular therapy : the journal of the American Society of Gene Therapy, ISSN 1525-0016, 08/2019, Volume 27, Issue 12, pp. 2147 - 2157
Limb girdle muscular dystrophy type 2A (LGMD2A), caused by mutations in the Calpain 3 (CAPN3) gene, is an incurable autosomal recessive disorder that results... 
Journal Article
ZEITSCHRIFT FUR RHEUMATOLOGIE, ISSN 0340-1855, 09/2017, Volume 76, Issue 7, pp. 640 - 643
We report the case of a 32-year-old woman with severely elevated serum creatine kinase (CK; 80,000 U/l) and progressive proximal pareses. As muscular biopsy... 
Polymyositis | Limb-girdle muscular dystrophy | Dysferlinopathy | RHEUMATOLOGY | LGMD2B | Myopathy
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 11/2019, Volume 10
Background: The inclusion of resistance training in the treatment and management of muscular dystrophy has previously been discouraged, based on mainly... 
Training | Adults | Weight training | Analysis | Limb-Girdle | functional tasks | muscular dystrophy | resistance training | Becker | Fascioscapulohemeral
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019, p. 103655
LGMD1D is an autosomal dominant limb girdle muscular dystrophy caused by variants in the DNAJB6 gene. This is typically an adult-onset disorder characterized... 
LGMD1D | Genotype-phenotype correlation | DNAJB6 | Limb-girdle muscular dystrophy (LGMD) | Exome sequencing
Journal Article
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