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

• Prif Awduron: Sharika V. Raga (Awdur), Jo Madeleine Wilmshurst (Awdur), Izelle Smuts (Awdur), Surita Meldau (Awdur), Soraya Bardien (Awdur), Maryke Schoonen (Awdur), Francois Hendrikus van der Westhuizen (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...