Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. - Wikidata - awgldk - TriplyDB

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

http://www.wikidata.org/entity/Q36096079

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New horizons for congenital myasthenic syndromes Neurological aspects of human glycosylation disorders Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 Mesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubes ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness.Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes Understanding human glycosylation disorders: biochemistry leads the charge.Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation.Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.Muscle magnetic resonance imaging in congenital myasthenic syndromes.GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.Implications for the mammalian sialidases in the physiopathology of skeletal muscle Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Synaptic dysfunction in congenital myasthenic syndromes.Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.Congenital disorders of glycosylation: new defects and still counting.Inherited disorders of the neuromuscular junction: an update.What Have We Learned from Glycosyltransferase Knockouts in Mice?Clinical features of the myasthenic syndrome arising from mutations in GMPPB.Myopathology in congenital myopathies.DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy.Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia.Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

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P2860

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

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Judith Cossins

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Katsiaryna Belaya

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Samuel I Pascual Pascual

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Siarhei Maslau

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Wei Wei Liu

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P2860

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

dbSNP: the NCBI database of genetic variation

A map of human genome variation from population-scale sequencing

The human genome browser at UCSC

The generic genome browser: a building block for a model organism system database

A method and server for predicting damaging missense mutations

The Sequence Alignment/Map format and SAMtools

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations

Clinical features of the DOK7 neuromuscular junction synaptopathy

A recessive deletion in the GlcNAc-1-phosphotransferase gene results in peri-implantation embryonic lethality

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