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Case Reports
. 1994 Apr;31(4):317-20.
doi: 10.1136/jmg.31.4.317.

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

S J Steinberg  1 , C P Ward, A H Fensom
Affiliations
Case Reports

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

S J Steinberg et al. J Med Genet. 1994 Apr.

Abstract

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.

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