Article
[A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
Rinsho shinkeigaku = Clinical neurology - 1 Mar 2005
Shimohata Mitsuteru, Hirahara Kiyoshi, Igarashi Shuichi, Hara Kenju, Kijima Kazuki, Onodera Osamu, Tanaka Keiko, Nishizawa Masatoyo, Tsuji Shoji, Hayasaka Kiyoshi
Abstract excerpt
We report a 51-year-old man genetically diagnosed as Charcot-Marie-Tooth disease type 4F. The patient was the first child of healthy, consanguineous parents. He had two sisters and one of them showed similar but milder symptoms. He had gait disturbance since childhood. Then he noticed muscle weakness of his hands at the age of early forties, and more difficulties in gait at the age of late forties. On examination...
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