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A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity

Yoshihisa Higuchi, Masako Hongou, Kyoko Ozawa, Hideo Kokawa, Motoko Masaki
Pediatric Neurology 2005, 32 (5): 358-60
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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