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  • Title: A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.
    Author: Higuchi Y, Hongou M, Ozawa K, Kokawa H, Masaki M.
    Journal: Pediatr Neurol; 2005 May; 32(5):358-60. PubMed ID: 15866440.
    Abstract:
    This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal dominant Emery-Dreifuss muscular dystrophy, he is the first to have familial onset, and in the severe end of this disease spectrum.
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