The association of congenital muscular dystrophy (CMD) with type I1 lissencephaly and ocular anomalies is found in Fukuyama CMD (FCMD), the Walker-Warburg syndrome (WWS), and muscle-eye-brain disease (MEBD). The classification of these disorders remains controversial. Between 1972 and 1992, we perfo
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Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy
โ Scribed by E. Kondo-Iida; Kayoko Saito; Hajime Tanaka; Shoji Tsuji; Tadayuki Ishihara; Makiko Osawa; Yukio Fukuyama; Tatsushi Toda
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 58 KB
- Volume
- 99
- Category
- Article
- ISSN
- 0340-6717
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We conducted prenatal diagnosis by haplotype analysis, using newly developed microsatellite markers, in eight Fukuyama type congenital muscular dystrophy (FCMD) families. In addition to six new families, two previously reported families were reexamined by haplotype analysis including detection of an