Impaired gating of γ‐ and ε‐AChR respectively causes Escobar syndrome and fast‐channel myasthenia
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51756
Abstract: To dissect the kinetic defects of acetylcholine receptor (AChR) γ subunit variant in an incomplete form of the Escobar syndrome without pterygium and compare it with those of a variant of corresponding residue in the… read more here.
Keywords: achr respectively; achr; gating achr; escobar syndrome ... See more keywords
Molecular Diagnosis of Rare Autosomal Recessive Escobar Syndrome in a Consanguineous Pakistani Family.
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DOI: 10.1089/gtmb.2018.0122
Abstract: BACKGROUND Escobar syndrome, a nonlethal variant of multiple pterygium syndromes (MPS), is a rare autosomal recessive disorder characterized by pterygia and multiple joint contractures along with other anomalies. Variants in cholinergic receptor nicotinic gamma subunit… read more here.
Keywords: rare autosomal; pakistani family; family; autosomal recessive ... See more keywords
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101748
Abstract: Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal system and the skin. Mutations in the CHRNG and TPM2 genes are associated with this pathology. In this study, we conducted a clinical… read more here.
Keywords: escobar; expression; escobar syndrome; mutation ... See more keywords