A manifesting female carrier of Duchenne muscular dystrophy: importance of genetics for the dystrophinopathies.
- Resource Type
- Case Study
- Authors
- Zhi Xuan Quak; Ming Li Tan; Kong Bing Tan; Weiqin Lin; Ping Chai; Kay Wei Ping Ng
- Source
- Singapore Medical Journal; Jan2023, Vol. 64 Issue 1, p81-86, 6p
- Subject
- DUCHENNE muscular dystrophy
GENETICS
HYPOVENTILATION
BECKER muscular dystrophy
COUGH
EXTRACELLULAR matrix proteins
- Language
- ISSN
- 00375675
A case study of 55‑year‑old Chinese woman is presented at centre with a fall. Topics include examines she had a background of lower limb weakness since her adolescence and recently started ambulating with a walking stick and considered she also had a family history of neuromuscular disease, with a son who was diagnosed with DMD through muscle biopsy.