Article
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
Journal de la Societe de biologie - 1 Jan 2005
Chevessier Frédéric, Faraut Brice, Ravel-Chapuis Aymeric, Richard Pascale, Gaudon Karen, Bauché Stéphanie, Prioleau Cassandra, Herbst Ruth, Goillot Evelyne, Ioos Christine, Azulay Jean-Philippe, Attarian Shahram, Leroy Jean-Paul, Fournier Emmanuel, Legay Claire, Schaeffer Laurent, Koenig Jeanine, Fardeau Michel, Eymard Bruno, Pouget Jean, Hantaï Daniel
Abstract excerpt
Congenital myasthenic syndromes (CMS) are rare genetic diseases affecting the neuromuscular junction (NMJ) and are characterized by a dysfunction of the neurotransmission. They are heterogeneous at their pathophysiological level and can be classified in three categories according to their presynaptic, synaptic and postsynaptic origins. We report here the first case of a human neuromuscular transmission...
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