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April 1971

Humangenetik: Advances in Human Genetics, Paramyotonia Congenita (Eulenburg).

Arch Neurol. 1971;24(4):384. doi:10.1001/archneur.1971.00480340116024

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Geneticists have made substantial contributions towards unravelling complicated syndromes, and this book is another fine example. Arguments based on feelings rather than facts have cast doubts upon the existence of paramyotonia congenita as described by Eulenburg in 1886, the disorder having been relegated to oblivion by those who claim it to be indistinguishable from Thomsen's myotonia congenita, or from the more recently described adynamia episodica hereditaria (Gamstorp).

The author was able to identify all cases but one, ever published in Germany, and these were either propositi or were identified as members of examined families. Eighteen kinships with 308 cases of paramyotonia were studied and from these it was concluded that all affected persons in Germany originated from one mutant which occurred during the first half of the 17th century. The frequency of this anomaly seems to have increased proportionately to the increase in population, since it does not decrease fertility

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