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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
  1. V Mihaylova1,
  2. R H Scola2,
  3. B Gervini2,
  4. P J Lorenzoni2,
  5. C K Kay2,
  6. L C Werneck2,
  7. R Stucka1,
  8. V Guergueltcheva1,
  9. M von der Hagen3,
  10. A Huebner4,
  11. A Abicht1,
  12. J S Müller5,
  13. H Lochmüller5
  1. 1Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany
  2. 2Neuromuscular/Neurology Division, Hospital de Clinicas, Universidade Federal do Parana, Curitiba, Brazil
  3. 3Department of Pediatric Neurology, Technical University Dresden, Germany
  4. 4Children's Hospital, Technical University Dresden, Germany
  5. 5Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Newcastle upon Tyne, UK
  1. Correspondence to Hanns Lochmüller, Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Newcastle upon Tyne, NE1 3BZ; UK; hanns.lochmuller{at}


Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana.

Patients and methods Twenty-five CMS patients from 18 independent families were included in the study. Known CMS genes were sequenced and restriction digest for the mutation RAPSN p.N88K was performed in all patients.

Results We identified recessive mutations of CHRNE in ten families, mutations in DOK7 in three families and mutations in COLQ, CHRNA1 and CHRNB1 in one family each. The mutation CHRNE c.70insG was found in six families. We have repeatedly identified this mutation in patients from Spain and Portugal and haplotype studies indicate that CHRNE c.70insG derives from a common ancestor.

Conclusions Recessive mutations in CHRNE are the major cause of CMS in Southern Brazil with a common mutation introduced by Hispanic settlers. The second most common cause is mutations in DOK7. The minimum prevalence of CMS in Parana is 0.18/100 000.

  • Congenital myasthenic syndromes
  • acetylcholine receptor
  • DOK7
  • founder mutation
  • parana
  • myasthenia

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  • V Mihaylova and R H Scola are contributed equally to the study.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.