Journal article
Late-childhood-onset spinal muscular atrophy in three Melanesian families in Papua New Guinea
American Journal of Medical Genetics Part A, Vol.19(4), pp.769-777
1984
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.
Details
- Title
- Late-childhood-onset spinal muscular atrophy in three Melanesian families in Papua New Guinea
- Authors/Creators
- E.M. Scrimgeour (Author/Creator) - University of Papua New GuineaF.L. Mastaglia (Author/Creator) - The University of Western Australia
- Publication Details
- American Journal of Medical Genetics Part A, Vol.19(4), pp.769-777
- Publisher
- Wiley-Liss Inc
- Identifiers
- 991005541407007891
- Copyright
- © 1984 Wiley-Liss, Inc.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.2204 Spinal Muscular Atrophy
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics