Congenital myasthenic syndromes and transient myasthenia gravis

Anna Gajda, Hajnalka Szabó, Gyurgyinka Gergev, V. Karcagi, Nóra Szabó, E. Endreffy, S. Túri, L. 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
JournalIdeggyógyászati szemle
Volume66
Issue number5-6
Publication statusPublished - May 30 2013

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Congenital Myasthenic Syndromes
Myasthenia Gravis
Neonatal Myasthenia Gravis
Muscle Hypotonia
Muscle Weakness
Cholinergic Receptors
Mutation

Keywords

  • Congenital myasthenic syndromes
  • Transient neonatal myasthenia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Congenital myasthenic syndromes and transient myasthenia gravis. / Gajda, Anna; Szabó, Hajnalka; Gergev, Gyurgyinka; Karcagi, V.; Szabó, Nóra; Endreffy, E.; Túri, S.; Sztriha, L.

In: Ideggyógyászati szemle, Vol. 66, No. 5-6, 30.05.2013, p. 200-203.

Research output: Contribution to journalArticle

Gajda A, Szabó H, Gergev G, Karcagi V, Szabó N, Endreffy E et al. Congenital myasthenic syndromes and transient myasthenia gravis. Ideggyógyászati szemle. 2013 May 30;66(5-6):200-203.
Gajda, Anna ; Szabó, Hajnalka ; Gergev, Gyurgyinka ; Karcagi, V. ; Szabó, Nóra ; Endreffy, E. ; Túri, S. ; Sztriha, L. / Congenital myasthenic syndromes and transient myasthenia gravis. In: Ideggyógyászati szemle. 2013 ; Vol. 66, No. 5-6. pp. 200-203.
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