Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes
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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.