Summary
Duchenne muscular dystrophy and congenital muscular dystrophy (Fukuyama type) were analyzed clinically, genetically and epidemiologically in Shimane Prefecture in the Western Honshu Island of Japan. Cases were collected from all available sources and the diagnosis was reexamined by our group, yielding a total of 83 patients with various myopathies.
Thirty-two patients with Duchenne muscular dystrophy were found. Their clinical manifestations were not different from cases occurring elsewhere in Japan. The incidence rate of this type was 20.8×10−5. Parental consanguinity of the cases was noted in 18.5%, considerably higher than control families.
As to the Fukuyama type of congenital muscular dystrophy, 11 patients were identified. The incidence rate was 5.60×10−5. There was no doubt that an autosomal recessive pattern of inheritance was involved in these patients. The gene frequency was estimated as 0.0075.
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Takeshita, K., Yoshino, K., Kitahara, T. et al. Survey of duchenne type and congenital type of muscular dystrophy in Shimane, Japan. Jap J Human Genet 22, 43–47 (1977). https://doi.org/10.1007/BF01908284
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DOI: https://doi.org/10.1007/BF01908284
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