Catalog Home Page

Late-childhood-onset spinal muscular atrophy in three Melanesian families in Papua New Guinea

Scrimgeour, E.M. and Mastaglia, F.L. (1984) Late-childhood-onset spinal muscular atrophy in three Melanesian families in Papua New Guinea. American Journal of Medical Genetics Part A, 19 (4). pp. 769-777.

Link to Published Version: http://dx.doi.org/10.1002/ajmg.1320190417
*Subscription may be required

Abstract

Late-childhood-onset spinal muscular atrophy (SMA) with rapid progression from proximal to distal muscle groups and leading to severe incapacity or death in adolescence or early adult life, was studied in two Melanesian families in Papua New Guinea. Probable SMA with cardiomyopathy was observed in a 12-year-old boy in a related family. The pattern of inheritance in the study group did not conform to any of the conventional Mendelian modes and it was conjectured that the disease was expressed in heterozygote carriers of the SMA gene only when an allelomorphic activator gene was present.

Publication Type: Journal Article
Publisher: Wiley-Liss Inc
Copyright: © 1984 Wiley-Liss, Inc.
URI: http://researchrepository.murdoch.edu.au/id/eprint/24385
Item Control Page Item Control Page