Ontology highlight
ABSTRACT:
SUBMITTER: Senderek J
PROVIDER: S-EPMC3035713 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
American journal of human genetics 20110201 2
Neuromuscular junctions (NMJs) are synapses that transmit impulses from motor neurons to skeletal muscle fibers leading to muscle contraction. Study of hereditary disorders of neuromuscular transmission, termed congenital myasthenic syndromes (CMS), has helped elucidate fundamental processes influencing development and function of the nerve-muscle synapse. Using genetic linkage, we find 18 different biallelic mutations in the gene encoding glutamine-fructose-6-phosphate transaminase 1 (GFPT1) in ...[more]