A case for genomic medicine in South African paediatric patients with neuromuscular disease

• Main Authors: Sharika V. Raga (Author), Jo Madeleine Wilmshurst (Author), Izelle Smuts (Author), Surita Meldau (Author), Soraya Bardien (Author), Maryke Schoonen (Author), Francois Hendrikus van der Westhuizen (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Paediatric neuromuscular diseases are under-recognised and under-diagnosed in Africa, especially those of genetic origin. This may be attributable to various factors, inclusive of socioeconomic barriers, high burden of communicable and non-communicable diseases, resource constraints, lack of experti...