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Comment
. 2013 Mar;136(Pt 3):692-5.
doi: 10.1093/brain/awt042.

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes

Henry Houlden
Comment

Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes

Henry Houlden. Brain. 2013 Mar.
No abstract available

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Figures

Figure 1
Figure 1
Flow diagram of gene identification in congenital myasthenic syndome and other rare inherited disorders. CGH = comparative genomic hybridization.
See this image and copyright information in PMC

Comment on

  • Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
    Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, Liu WW, Maxwell S, Zoltowska K, Farsani GT, Laval S, Seidhamed MZ; WGS500 Consortium; Donnelly P, Bentley D, McGowan SJ, Müller J, Palace J, Lochmüller H, Beeson D. Cossins J, et al. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11. Brain. 2013. PMID: 23404334 Free PMC article.

References

    1. Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, et al. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat. 2012;33:1474–84. - PubMed
    1. Beeson D. congenital myasthenic syndromes. ACNR Rev. 2012;11:10–14.
    1. Belaya K, Finlayson S, Slater C, Cossins J, Liu WW, Maxwell S, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet. 2012;91:193–201. - PMC - PubMed
    1. Chaouch A, Beeson D, Hantai D, Lochmuller H. 186th ENMC International Workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. Neuromuscul Disord. 2012;22:566–76. - PubMed
    1. Cossins J, Belaya K, Hicks D, Salih MA, Finlayson S, Carboni N, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013;136:944–56. - PMC - PubMed

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