关键词: AChR GFPT1 Limb-girdle myasthenia Tubular aggregates
Mesh : Action Potentials Animals Asians Cholinesterase Inhibitors / therapeutic use Databases, Genetic Electric Stimulation Female Genetic Testing Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing) / genetics Humans Male Muscle, Skeletal / pathology Muscular Dystrophies, Limb-Girdle / drug therapy genetics pathology Mutation, Missense / genetics Myopathies, Structural, Congenital / drug therapy genetics pathology Pedigree Polymorphism, Single Nucleotide Pyridostigmine Bromide / therapeutic use Young Adult
来 源:
DOI:10.1016/j.nmd.2019.05.008
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