Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

doi:10.1016/j.nmd.2003.07.002

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Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Neuromuscular disorders : NMD - 1 Jan 2004

Yasaki Eriko, Prioleau Cassandra, Barbier Julien, Richard Pascale, Andreux Frédéric, Leroy Jean-Paul, Dartevelle Philippe, Koenig Jeanine, Molgó Jordi, Fardeau Michel, Eymard Bruno, Hantaï Daniel

Abstract excerpt

Congenital myasthenic syndromes are rare heterogeneous hereditary disorders, which lead to defective neuromuscular transmission resulting in fatigable muscle weakness. Post-synaptic congenital myasthenic syndromes are caused by acetylcholine receptor kinetic abnormalities or by acetylcholine rece...

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Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Abstract excerpt

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