Dystrophin Gene
Also written as DMD.
*Example:* Duchenne muscular dystrophy often results from nonsense mutations in the dystrophin gene.
What our notes say
- *Example:* Duchenne muscular dystrophy often results from nonsense mutations in the dystrophin gene. (Medical Biochemistry Paper B Review — MCQ Bank)
- Example: Duchenne Muscular Dystrophy (DMD) – Caused by nonsense mutations in the dystrophin gene. (Types of Mutations in ARBHN — Notes)
- malities in the X-linked dystrophin gene of the sarco- myocardium by deposits of fat. (Harrisons Cardiovascular Medicine 2nd Edition 2)
- Deletions — Duchenne muscular dystrophy (large dystrophin gene deletions), Cri du chat syndrome (5p deletion) (Cytopathology vs Histopathology CAT: Definitions & Lab Basics — CAT)
- Genetic testing reveals a mutation in the dystrophin gene on the X chromosome. (Genetics & Disease: Muscular Dystrophy, CF, Marfan, Diabetes, Cancer — Notes)
- Mutation in dystrophin gene leading to sarcolemma instability (Genetics & Disease: Muscular Dystrophy, CF, Marfan, Diabetes, Cancer — Notes)
Practice questions on Dystrophin Gene
A 25-year-old man presents with progressive muscle weakness. Genetic testing reveals a mutation in the dystrophin gene on the X chromosome. Which best explains why this mutation leads to disease? Dystrophin anchors the cytoskeleton to the membrane; without it, muscle fibers tear during contraction. ---
- Loss of DNA repair capacity leading to increased mutations
- Impaired immune surveillance against abnormal muscle fibers
- Defective enzyme causing substrate accumulation in lysosomes
- Failure of apoptosis leading to accumulation of abnormal myocytes
- Defective structural protein disrupting muscle cell membrane stability
Answer: E.