Fukuyama congenital muscular dystrophy
Definition:
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.
References:
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[1]. Hui Xiong, et al. Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. Am J Med Genet A. 2009 Nov;149A(11):2403-8. [Content Brief]
[2]. K Kobayashi, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23;394(6691):388-92. [Content Brief]
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