Article
Neuronal expression of the fukutin gene.
Human molecular genetics - 12 Dec 2000
Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E, Fukayama M, Mizusawa H, Takashima S, Sakakihara Y, Nakamura Y, Toda T
Abstract excerpt
Fukuyama-type congenital muscular dystrophy (FCMD), a relatively common autosomal recessive disorder in Japan, is characterized by severe congenital muscular dystrophy in combination with cortical dysgenesis (polymicrogyria). The gene responsible for FCMD encodes a novel protein, fukutin, which is likely to be an extracellular protein. Pathological study of brain tissue from FCMD fetuses revealed frequent breaks...
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