title: A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.
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.
authors.affiliation: Department of Pediatrics, Utano National Hospital, Kyoto, Japan.
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Masako
authors.initials: M
authors.lastname: Hongou
authors.forename: Kyoko
authors.initials: K
authors.lastname: Ozawa
authors.forename: Hideo
authors.initials: H
authors.lastname: Kokawa
authors.forename: Motoko
authors.initials: M
authors.lastname: Masaki
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005799:Genes, Dominant; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index