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Late-onset limb-girdle muscle weakness with tubular aggregates, effective cholinesterase inhibitors and spared extraocular muscles are hallmarks of glycosylation defect-associated congenital myasthenia.
Congenital myasthenic syndromes (CMS) are heterogeneous disorders caused by germline mutations in genes encoding molecules expressed at the neuromuscular junction. In all, 14 genes (CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, RAPSN, SCN4A, MUSK, DOK7, PLEC1, LAMB2, COLQ, CHAT, AGRN) had been identified in association with CMS by 2006. All the identified molecules function exclusively at the neuromuscular junction except for choline acetyltransferase, which is also essential for cholinergic synapses in the central nervous system. …
Author note Cossins and colleagues6 have recently reported mutations in the other glycosylation enzymes, ALG2 and ALG14, in seven patients with a limb-girdle pattern of muscle weakness with eye, facial, and bulbar muscles largely spared and with favorable responses to cholinesterase inhibitors.
Competing interests None.
Provenance and peer review Commissioned; not externally peer reviewed.