| 概要 |
Fukuyama congenital muscular dystrophy (FCMD) is one of the most common autosomal recessive disorders in Japan. It is characterized by severe muscular dystrophy associated with brain malformation. FCMD is caused by mutations in the fukutin gene. Clinical manifestations include neonatal hypotonia, seizures, and delayed motor and speech development.
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| 著者 |
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T |
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| 著者 |
Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X |
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