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BMJ Case Rep. 2013 Jan 29;2013. pii: bcr2012007651. doi: 10.1136/bcr-2012-007651.

Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.

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1
Unit of Pediatrics and Pediatric Emergency, University Hospital OVE-Policlinico, Catania, Italy. ppavone@mbox.unict.it

Abstract

The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in severe lumbar hyperlordosis. Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene. The present report highlights the clinical variability of the CMS.

PMID:
23365176
PMCID:
PMC3603822
DOI:
10.1136/bcr-2012-007651
[Indexed for MEDLINE]
Free PMC Article
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