Clinical and genetic characterization of an Italian family with slow-channel syndrome

Corrado Angelini, Ludovico Lispi, Cecilia Salvoro, Maria Luisa Mostacciuolo, Giovanni Vazza

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: The slow-channel congenital myasthenic syndrome (SCCMS) is a postsynaptic form of congenital myasthenic syndromes (CMSs), a clinically heterogeneous group of disorders caused by genetic defects leading to an abnormal signal transmission at the endplate. Methods: We report clinical and molecular data of a multigenerational family in which the presentation of a progressive proximal-distal weakness with ocular involvement led to a number of different clinical diagnoses. Results: A comprehensive genetic study which included whole-genome linkage analysis and whole-exome sequencing identified a heterozygous missense substitution (c.721C>T, p.L241F) in the ε subunit of the acetylcholine receptor (CHRNE) that was consistent with clinical weakness in all patients. Discussion: SCCMS is characterized by a broad and heterogeneous clinical phenotype in which disease onset, symptoms, severity, and progression can be highly variable even between family members. The identification of a CHRNE mutation allowed to make the definitive diagnosis of CMS in this family and contributed to define the clinical spectrum of this disease.

Original languageEnglish
JournalNeurological Sciences
DOIs
Publication statusAccepted/In press - Jan 1 2018

Keywords

  • CHRNE mutation
  • Congenital myasthenic syndrome
  • Linkage analysis
  • Slow-channel congenital myasthenic syndrome
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

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