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Diagnosis of congenital muscular dystrophies

✍ Scribed by H. Topaloglu

Book ID
114359108
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
45 KB
Volume
12
Category
Article
ISSN
1090-3798

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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