Mutations in genes encoding components of the asparagine-linked protein glycosylation pathway are associated with congenital myasthenic syndromes (CMSs), a new study reveals. Cossins et al. found causative ALG2 and ALG14 mutations among a cohort of patients with a form of CMS characterized by limb-girdle myasthenia. The findings are consistent with previous data linking CMS to mutations in DPAGT1, which encodes another enzyme involved in asparagine-linked protein glycosylation.
ORIGINAL RESEARCH PAPER
Cossins, J. et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 136, 944–956 (2013)
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Defects in asparagine-linked protein glycosylation implicated in congenital mysathenic syndromes. Nat Rev Neurol 9, 183 (2013). https://doi.org/10.1038/nrneurol.2013.45
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DOI: https://doi.org/10.1038/nrneurol.2013.45
