Bloch F, Drupt F, Mallet L, Potevin F, Leclerc M, Petite J P
Ann Med Interne (Paris). 1982;133(8):590-3.
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.