Correlating phenotype and genotype in the periodic paralyses

  title={Correlating phenotype and genotype in the periodic paralyses},
  author={Timothy M. Miller and Magnus R{\'e}gios Dias da Silva and H A Miller and Hubert Kwiecinski and Jerry R. Mendell and Rabi Tawil and Philip G. McManis and Robert C. Griggs and Corrado Angelini and Serena Servidei and Jack H. Petajan and Marinos C. Dalakas and Laura P. W. Ranum and Y. H. Fu and Louis J. Pt{\'a}{\vc}ek},
  pages={1647 - 1655}
BACKGROUND Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. [] Key MethodMETHODS The authors have reviewed clinical data in patients with a diagnosis of hypokalemic periodic paralysis (56 kindreds, 71 patients), hyperkalemic periodic paralysis (47 kindreds, 99 patients), and paramyotonia congenita (24 kindreds, 56 patients).

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