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Neurology, ISSN 0028-3878, 02/2019, Volume 92, Issue 6, pp. e587 - e593
OBJECTIVETo determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features... 
HEXOSAMINE | GENE | GFPT1 | GLYCOSYLATION | PRESENTATIONS | MUTATIONS | SPECTRUM | CLINICAL NEUROLOGY
Journal Article
Shengwu Gongcheng Xuebao/Chinese Journal of Biotechnology, ISSN 1000-3061, 06/2018, Volume 34, Issue 6, pp. 956 - 963
Journal Article
Journal of Neurology, ISSN 0340-5354, 8/2017, Volume 264, Issue 8, pp. 1791 - 1803
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a... 
Neurology | Neurosciences | Medicine & Public Health | GFPT1 | Tubular aggregates | Neuromuscular junction | Neuroradiology | Limb-girdle myasthenia | Myopathy | DPAGT1 | TRANSPORTER | CLINICAL-FEATURES | IDENTIFICATION | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | GENE | STIM1 | GFPT1 MUTATIONS | EXPRESSION | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Muscle, Skeletal - innervation | Myopathies, Structural, Congenital - genetics | Young Adult | Myopathies, Structural, Congenital - drug therapy | Myasthenic Syndromes, Congenital - pathology | Adult | Female | Retrospective Studies | Neuromuscular Junction - enzymology | Neuromuscular Junction - pathology | Myasthenic Syndromes, Congenital - enzymology | Myasthenic Syndromes, Congenital - genetics | Muscle, Skeletal - enzymology | Myopathies, Structural, Congenital - enzymology | Glycosylation | Myasthenic Syndromes, Congenital - drug therapy | Adolescent | Myopathies, Structural, Congenital - pathology | Aged | Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) - genetics | Muscle, Skeletal - pathology | Complications and side effects | Myasthenia gravis | Gene mutations | Physiological aspects | Muscle diseases | Genetic aspects | Research | Risk factors | Fructose-6-phosphate | Congenital defects | Transaminase | Tubules | Fructose | Skeletal muscle | Membrane proteins | Proteins | Etiology | Biopsy | Neuromuscular junctions | Reinnervation | Myasthenia | Mutation | Denervation | Glutamine | Life Sciences | Neurons and Cognition | Neurobiology
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 07/2019, Volume 29, Issue 7, pp. 549 - 553
Limb-girdle myasthenia with tubular aggregates, a subtype of congenital myasthenic syndrome, is an extremely rare autosomal recessive genetic disease... 
AChR | Tubular aggregates | Limb-girdle myasthenia | GFPT1 | UNDERLIE | GLYCOSYLATION | NEUROSCIENCES | AMIDOTRANSFERASE | CLINICAL NEUROLOGY | Viral antibodies | Genetic disorders | Myasthenia gravis | Enzyme inhibitors | Wildlife conservation | Genomics | Antibodies | Fatigue | Genetic aspects | Genetic screening
Journal Article
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2012, Volume 259, Issue 5, pp. 838 - 850
Journal Article
Cancer Letters, ISSN 0304-3835, 04/2018, Volume 419, pp. 187 - 202
Journal Article