engleski

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

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.

CMS-EA; CHAT mutation

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