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ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 07/2019, Volume 14, Issue 1, pp. 179 - 17
Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2019, Volume 60, Issue 4, pp. 419 - 424
Limb-girdle muscular dystrophy (LGMD) consists of over 30 genetic conditions with varying clinical phenotypes primarily affecting pelvic girdle, shoulder... 
rare diseases | neuromuscular diseases | disease burden | limb‐girdle muscular dystrophy | signs and symptoms | DIAGNOSIS | QUALITY-OF-LIFE | NEUROSCIENCES | CLINICAL NEUROLOGY | limb-girdle muscular dystrophy | Adults | Muscular dystrophy | Signs and symptoms | Phenotypes | Identification methods | Muscles | Dystrophy | Disease control | Patients | Emotions | Quality of life
Journal Article
Journal Article
CLINICAL NEUROPATHOLOGY, ISSN 0722-5091, 09/2019, Volume 38, Issue 5, pp. 225 - 232
Introduction: Next-generation sequencing in cases of hereditary neuromuscular disorders often yields multiple candidate gene variants. Here, we describe a case... 
exostosin glycosyl-transferase 2 | PHENOTYPE | DILATED CARDIOMYOPATHY | MYOPATHY | PATHOLOGY | LMNA MUTATIONS | CLINICAL NEUROLOGY | limb-girdle muscular dystrophy | lamin A/C | multiple exostoses | LAMIN | GENE | MISSENSE MUTATION | cardiomyopathy | ONSET
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2019, Volume 266, Issue 7, pp. 1649 - 1654
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive... 
Neurology | Neurosciences | Medicine & Public Health | Limb-girdle muscular dystrophy | COL6A2 | Collagenopathy | Neuroradiology | Myopathy | CLINICAL NEUROLOGY | Phenotypes | Magnetic resonance imaging | Collagen | Heredity | Children | Mutation | Dystrophy | Muscular dystrophy | Original Communication
Journal Article
JOURNAL OF CLINICAL NEUROLOGY, ISSN 1738-6586, 07/2019, Volume 15, Issue 3, pp. 275 - 284
Background and Purpose GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles... 
VARIANTS | KOREAN PATIENTS | PHENOTYPE | disease progression | CLINICAL NEUROLOGY | limb-girdle muscular dystrophies | FEATURES | mutation | DISTAL MYOPATHY | GENE | MUTATIONS | SPECTRUM | nonaka type distal myopathy | surveys and questionnaires | REGISTRY | Original | 신경과학
Journal Article
Journal of Cellular Physiology, ISSN 0021-9541, 06/2019, Volume 234, Issue 6, pp. 7874 - 7884
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2019
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
Journal of Neurology, ISSN 0340-5354, 02/2019, Volume 266, Issue 2, pp. 498 - 506
Limb-girdle muscular dystrophies (LGMD) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic... 
LGMD D3-HNRNPDL related | Limb girdle muscular dystrophy | HNRPDL | LGMD D3 | HNRNPDL | LGMD1G | MULTISYSTEM PROTEINOPATHY | RNA | MYOPATHY | CLINICAL NEUROLOGY | Phenotypes | Biopsy | Mutation | Dystrophy | RNA processing | Muscular dystrophy | Vacuoles | Myopathy
Journal Article
International Heart Journal, ISSN 1349-2365, 2019, Volume 60, Issue 1, pp. 12 - 18
Journal Article
Case Reports in Neurology, ISSN 1662-680X, 01/2019, Volume 11, Issue 1, pp. 10 - 16
Glucocorticoids are candidates for the pharmacological treatment of dysferlinopathy. Deflazacort, however, showed a worse effect on muscle strength than... 
Case Report | Limb-girdle muscular dystrophy type 2B | Alternate-day low-dose administration | Dysferlinopathy | Prednisone | Isometric muscle strength | Case studies | Musculoskeletal system | Mutation | Patients | Age | Muscular dystrophy
Journal Article