[Asymptomatic abetalipoproteinemia associated with partial apoprotein B deficiency: a familial case report].
The authors report a case of familial asymptomatic abetalipoproteinemia. The propositus has total abetalipoproteinemia associated with a partial apoprotein B defect. His two daughters have a subtotal betalipoprotein deficiency. This familial case, with autosomal dominant transmission, seems different from other reports. It supports the hypothesis that the primary involvement is a deficiency in apoprotein B synthesis, which appears more closely correlated with clinical symptoms.
D000012:Abetalipoproteinemia / Q000235:genetics*; D000328:Adult; D001053:Apolipoproteins / Q000172:deficiency*; D001055:Apolipoproteins B; D002648:Child; D004586:Electrophoresis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008077:Lipoproteins, LDL / Q000172:deficiency; D008297:Male
D001053:Apolipoproteins; D001055:Apolipoproteins B; D008077:Lipoproteins, LDL
Abêtalipoprotéinémie asymptomatique associée à un déficit partiel en apoprotéine B: une observation familiale.