familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations
combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
autosomal recessive congenital fiber-type disproportion myopathy due to selenoprotein n mutation