Congenital myasthenic syndromes and transient myasthenia gravis

Anna Gajda, Hajnalka Szabó, Gyurgyinka Gergev, Veronika Karcagi, Nóra Szabó, Emoke Endreffy, Sándor Túri, László Sztriha

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular ¡such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.

Original languageEnglish
Pages (from-to)200-203
Number of pages4
JournalIdeggyogyaszati szemle
Volume66
Issue number5-6
Publication statusPublished - May 30 2013

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Keywords

  • Congenital myasthenic syndromes
  • Transient neonatal myasthenia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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