Naslov
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.

Autori
Barišić, Nina ; Mueller, Juliane ; Paučić-Kirinčić, Ela ; Gazdik, Miljen ; Lah-Tomulić, Kristina ; Pertl, A ; Sertić, Jadranka ; Zurak, Niko ; Lochmueller, Hanns ; Abicht, Angela ; Lehman, Ivan ; Mihelčić, Dina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Paediatric Neurology. Abstracts for the sixth European paediatric neurology society, EPNS Congress. 17-14 September 2005, Goteborg, Sweden / - , 2005

Skup
Sixth European paediatric neurology society, EPNS Congress

Mjesto i datum
Göteborg, Švedska, 14.09.2005. - 17.09.2005

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
CMS-EA; CHAT mutation

Sažetak
Congenital myasthenic syndromes (CMS) are a group of rare disorders caused by inherited impairment of the safety margin of neural transmission on presynaptic, synaptic and postsynaptic level. Generalized muscle hypotonia and weakness, poor suck and cry, feeding difficulties and developmental delay may be the first sign of CMS. Currently undrlying genetic defects have been identified in several genes encoding synapse associated proteins. Presynaptic CMS caused by mutations in the CHAT gene are frequently associated with episodic apneaa (CMS-EA) and sudden respiratory insufficiency. We report on two Croatian infants with CMS-EA carrying identical CHAT mutations.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA