In:
Cardiology, S. Karger AG, Vol. 120, No. 4 ( 2011), p. 200-203
Abstract:
The Andersen-Tawil syndrome (ATS) is characterized by hypo-normokaliemic muscle periodic paralysis, dysmorphic features and ventricular arrhythmias. Most cases are caused by mutations in 〈 i 〉 KCNJ2, 〈 /i 〉 encoding for the potassium inwardly rectifying channel, Kir2.1 (ATS1). Although 〈 i 〉 KCNJ2 〈 /i 〉 mutations show no obvious genotype-phenotype correlations and incomplete penetrance, signs of cardiac involvement are usually present in most ATS1 cases. In contrast, here we describe an Italian ATS1 patient, carrying a c.574A→G mutation in 〈 i 〉 KCNJ2, 〈 /i 〉 who had both facial dysmorphisms and muscle periodic paralysis but who did not manifest any cardiac involvement, although the same mutation was originally described in a Japanese kindred, in which all affected individuals manifested a severe cardiac phenotype.
Type of Medium:
Online Resource
ISSN:
0008-6312
,
1421-9751
Language:
English
Publisher:
S. Karger AG
Publication Date:
2011
detail.hit.zdb_id:
1482041-9
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