Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations
Muscle & Nerve, 05/10/2012
Huh SY et al. – Glutamine–fructose–6–phosphate transaminase 1 (GFPT1) is the key enzyme in the hexosamine biosynthesis pathway, and mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction. Identification of Limb–girdle myasthenia with tubular aggregates (LGM with TAs) among patients with congenital myasthenic syndrome is important, because treatment with cholinesterase inhibitors can produce symptomatic improvement. This is the first reported case of LGM with TA associated with GFPT1 mutations in the Asian population.