Article
[Clinical features of congenital myasthenic syndrome in Japan].
No to hattatsu = Brain and development - 1 Nov 2012
Irahara Kaori, Komaki Hirofumi, Honda Ryoko, Okumura Akihisa, Shiraishi Kazuhiro, Kobayashi Yuu, Azuma Yoshiteru, Nakata Tomohiko, Ohya Yasushi, Sasaki Masayuki
Abstract excerpt
OBJECTIVE: We examined the clinical and neurophysiological features of Japanese patients with congenital myasthenic syndrome (CMS). METHOD: Subjects were five patients who were diagnosed with CMS on the basis of clinical course, repetitive nerve stimulation (RNS), and genetic analysis. RESULTS: Four patients manifested motor retardation within one year of birth, while one manifested motor intolerance at three...
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