5 rezultate
Three experiments were conducted with day-old broiler chicks to determine the effects of dietary choline, biotin, and manganese on cartilage hexosamine and hydroxyproline content. The incidence of leg weakness was 75% or higher on all basal diets. The levels of supplementation found to minimize leg
BACKGROUND
Limb-girdle myasthenia with tubular aggregates (LGM with TAs) is a subtype of congenital myasthenic syndrome caused by recessive mutations of glutamine-fructose-6-phosphate transaminase 1 (GFPT1).
METHODS
Clinical and neurophysiological assessment was made in a Korean boy who had proximal
Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a limb-girdle pattern of muscle weakness. Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is a key rate-limiting enzyme in the hexosamine biosynthetic pathway providing building blocks for the glycosylation of
To determine the molecular etiology of disease in 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease.Clinical information and neuroimaging were reviewed. Genome sequencing was Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of this pathway cause congenital myasthenic syndrome (CMS)