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Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our understanding of neuromuscular transmission.

Type

Journal article

Journal

Curr Opin Neurol

Publication Date

10/1997

Volume

10

Pages

402 - 407

Keywords

DNA Mutational Analysis, Genes, Recessive, Humans, Myasthenia Gravis, Prognosis, Receptors, Cholinergic, Syndrome