Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa

• Main Authors: Herbert Makgopa (Author), Tanja Kemp (Author), Surita Meldau (Author), Engela M. Honey (Author), Bettina Chale-Matsau (Author)
• Format: Book
• Published: AOSIS, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243AG pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. This study, undertaken in Pretoria, South Africa, highlights the variable p...