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Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes

✍ Scribed by Eri Kondo-Iida; Kayoko Saito; Makiko Osawa; Tadayuki Ishihara; Tatsushi Toda; Yukio Fukuyama


Book ID
117545682
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
846 KB
Volume
19
Category
Article
ISSN
0387-7604

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Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by a combination of primary muscular dystrophy of early infantile onset and brain malformation (lissencephaly type 11). The identification of the FCMD gene locus at 9q31 opened the theoretical possibi