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ロマーノ・ウォード・ロングQT症候群のリセシブ変種ですか?

S G Priori1, P J Schwartz, C Napolitano

  • 1Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy.

Circulation
|June 26, 1998
PubMed
まとめ

ホモジゴスなKVLQT1遺伝子変異によって引き起こされる,ロマーノ・ウォードロングQT症候群の希少なリセシブ形態が特定されました. この発見は,軽度の突然変異が,JervellとLange-Nielsen症候群がない場合でも,個人を心律不整に誘発する可能性があることを示唆しています.

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