Congenital myasthenic syndrome: Phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene

Research output: Contribution to journalArticle

Abstract

Congenital myasthenic syndromes (CMS) are rare and heterogeneous genetic diseases characterized by compromised neuromuscular transmission and clinical features of fatigable weakness; age at onset, presenting symptoms, distribution of weakness, and response to treatment differ depending on the underlying molecular defect. Mutations in one of the multiple genes, encoding proteins expressed at the neuromuscular junction, are currently known to be associated with subtypes of CMS. The most common CMS syndrome identified is associated with mutation in the CHRNE gene, causing principally muscle nicotinic acetylcholine receptor deficiency, that results in reduced receptor density on the postsynaptic membrane. We describe the clinical, neurophysiological and molecular features of two unrelated CMS Italian families with marked phenotypic variability, carrying the already reported p.T159P mutation in the CHRNE gene. Our report highlights clinical heterogeneity, intrafamily variability in spite of the same genotype and a possible gender effect; it confirms the efficacy and safety of salbutamol in patients who harbor mutations in the epsilon subunit of acetylcholine receptor.
Original languageEnglish
Pages (from-to)28-32
Number of pages5
JournalActa Myologica
Volume36
Issue number1
Publication statusPublished - Mar 1 2017

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Congenital Myasthenic Syndromes
Mutation
Genes
Post-Synaptic Density
Inborn Genetic Diseases
Albuterol
Neuromuscular Junction
Nicotinic Receptors
Cholinergic Receptors
Age of Onset
Genotype
Safety
Muscles
Membranes
Proteins

Keywords

  • CHRNE gene
  • Congenital myasthenic syndromes
  • Phenotype variability

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Congenital myasthenic syndrome: Phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene. / Ardissone, Anna; Moroni, Isabella; Bernasconi, Pia; Brugnoni, Raffaella.

In: Acta Myologica, Vol. 36, No. 1, 01.03.2017, p. 28-32.

Research output: Contribution to journalArticle

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