📂 Diseases
mitochondrial DNA depletion syndrome 13 — Definition
Mitokondriyal DNA Tükenme Sendromu Tip 13 / mitochondrial DNA depletion syndrome 13
Mitokondriyal DNA depletion syndrome is a rare genetic disease that causes mitochondrial DNA to be found at lower levels than normal in cells. This leads to dysfunction of mitochondria, which plays a critical role in energy production. Clinically often manifests itself with muscle weakness, nutrition difficulty and development backrest, starting in early childhood. The disease indicates autozomal resessive inheritance and is caused by specific gene mutations.
Frequently Asked Questions
❓ What is Mitokondriyal DNA Tükenme Sendromu Tip 13?
Mitokondriyal DNA Tükenme Sendromu Tip 13; mitokondriyal DNA depletion syndrome is a rare genetic disease that causes mitochondrial DNA to be found at lower levels than normal in cells. This leads to dysfunction of mitochondria, which plays a critical role in energy production. Clinically often manifests itself with muscle weakness, nutrition difficulty and development backrest, starting in early childhood. The disease indicates autozomal resessive inheritance and is caused by specific gene mutations.
❓ What is mitochondrial DNA depletion syndrome 13 in Turkish?
The Turkish equivalent of "mitochondrial DNA depletion syndrome 13" is Mitokondriyal DNA Tükenme Sendromu Tip 13.
❓ Which medical field is Mitokondriyal DNA Tükenme Sendromu Tip 13 related to?
This term belongs to the Diseases category.