RT Journal Article
SR Electronic
T1 Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 317
OP 320
DO 10.1136/jmg.31.4.317
VO 31
IS 4
A1 Steinberg, S J
A1 Ward, C P
A1 Fensom, A H
YR 1994
UL http://jmg.bmj.com/content/31/4/317.abstract
AB Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group alpha) and one minor group (group beta) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently < 40% control levels confirmed the existence of the second group.