Fukuyama congenital muscular dystrophy

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Fukuyama congenital muscular dystrophy
OMIM 253800
DiseasesDB 31555

Fukuyama congenital muscular dystrophy (FCMD) is a form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan. Fifteen cases were first described in 1960 by Fukuyama.[1]

In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the FCMD gene).[2]

References

  1. Fukuyama, Y.; Kawazura, M.; Haruna, H. A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. Paediat. Univ. Tokyo 4: 5-8, 1960.
  2. Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y (1995). "Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome". Ann. Neurol. 37 (1): 99–101. doi:10.1002/ana.410370118. PMID 7818265.

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