Article
Correlating phenotype and genotype in the periodic paralyses.
Neurology - 9 Nov 2004
Miller T M, Dias da Silva M R, Miller H A, Kwiecinski H, Mendell J R, Tawil R, McManis P, Griggs R C, Angelini C, Servidei S, Petajan J, Dalakas M C, Ranum L P W, Fu Y H, Ptácek L J
Abstract excerpt
BACKGROUND: Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. OBJECTIVE: To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. METHODS: The authors have...
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