Fukuyama congenital muscular dystrophy
- Fukuyama congenital muscular dystrophy
Infobox_Disease
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DiseasesDB = 31555
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OMIM = 253800
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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. [cite journal |author=Fukuyama Y, Kawazura M, Haruna, H |title=A peculiar form of congenital progressive muscular dystrophy |journal=Paediat. Univ. Tokyo |volume=4 |issue= |pages=5–8 |year=1960]
In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the "FCMD" gene).[cite journal |author=Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y |title=Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome |journal=Ann. Neurol. |volume=37 |issue=1 |pages=99–101 |year=1995 |pmid=7818265 |doi=10.1002/ana.410370118] ]References
External Links
*RareDiseases|6475|Fukuyama type muscular dystrophy
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