A manifesting female carrier of Duchenne muscular dystrophy: importance of genetics for the dystrophinopathies.

Autor: Zhi Xuan Quak, Ming Li Tan, Kong Bing Tan, Weiqin Lin, Ping Chai, Kay Wei Ping Ng
Předmět:
Zdroj: Singapore Medical Journal; Jan2023, Vol. 64 Issue 1, p81-86, 6p
Abstrakt: 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.
Databáze: Complementary Index