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Article

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

5 Jul 2006

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16826520
DOI: 10.1086/506257

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ SubunitPMID 16826520Read ↗

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.Semantic proximity Read ↗

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenitaSemantic proximity Read ↗

Neuromotor synapses in Escobar syndrome.Semantic proximity Read ↗

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.Semantic proximity Read ↗

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.Semantic proximity Read ↗

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.Semantic proximity Read ↗

Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor.Semantic proximity Read ↗

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.Semantic proximity Read ↗

End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunitSemantic proximity Read ↗

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.Semantic proximity Read ↗

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductanceSemantic proximity Read ↗

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.Semantic proximity Read ↗

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