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- W2111983802 abstract "The authors regret that an error was present in numbering one of the two mutations in the above published paper. The heterozygous splicing mutation found in the patient is the c.1654 + 15G > A (intron 13) mutation and not c.2826 + 15G > A (intron 13) as indicated by error in the text. The authors would like to apologise for any inconvenience caused. Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndromeNeuromuscular DisordersVol. 23Issue 12PreviewSchwartz-Jampel syndrome (SJS) is a recessive disorder with muscle hyperactivity that results from hypomorphic mutations in the perlecan gene, a basement membrane proteoglycan. Analyses done on a mouse model have suggested that SJS is a congenital form of distal peripheral nerve hyperexcitability resulting from synaptic acetylcholinesterase deficiency, nerve terminal instability with preterminal amyelination, and subtle peripheral nerve changes. We investigated one adult patient with SJS to study this statement in humans. Full-Text PDF" @default.
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- W2111983802 title "Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]" @default.
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