A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity.
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.
Higuchi
Yoshihisa
Y
Department of Pediatrics, Utano National Hospital, Kyoto, Japan.
Hongou
Masako
M
Ozawa
Kyoko
K
Kokawa
Hideo
H
Masaki
Motoko
M
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