Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

OBJECTIVE: To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom. METHODS: Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was perform...

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Bibliografski detalji
Glavni autori: Davies, N, Imbrici, P, Fialho, D, Herd, C, Bilsland, L, Weber, A, Mueller, R, Hilton-Jones, D, Ealing, J, Boothman, B, Giunti, P, Parsons, L, Thomas, M, Manzur, A, Jurkat-Rott, K, Lehmann-Horn, F, Chinnery, P, Rose, M, Kullmann, D, Hanna, MG
Format: Journal article
Jezik:English
Izdano: 2005

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