📂 Diseases
mitochondrial DNA depletion syndrome 4b — Definition
mitokondriyal DNA tükenme sendromu 4b / mitochondrial DNA depletion syndrome 4b
Mitokondriyal DNA depletion syndrome 4b is a neuromuscular disease with autozomal resessive transition, characterized by a quantitative reduction of mitochondrial DNA. The clinically progressive muscle weakness, hypotonia, nutrition power and respiratory failure. The disease can lead to mitochondrial dysfunction especially in liver and muscle tissues, causing lactic acidosis and encephalopathy. This syndrome is associated with mutations in the TK2 gene and usually has a serious prognosis.
Frequently Asked Questions
❓ What is mitokondriyal DNA tükenme sendromu 4b?
mitokondriyal DNA tükenme sendromu 4b; mitokondriyal DNA depletion syndrome 4b is a neuromuscular disease with autozomal resessive transition, characterized by a quantitative reduction of mitochondrial DNA. The clinically progressive muscle weakness, hypotonia, nutrition power and respiratory failure. The disease can lead to mitochondrial dysfunction especially in liver and muscle tissues, causing lactic acidosis and encephalopathy. This syndrome is associated with mutations in the TK2 gene and usually has a serious prognosis.
❓ What is mitochondrial DNA depletion syndrome 4b in Turkish?
The Turkish equivalent of "mitochondrial DNA depletion syndrome 4b" is mitokondriyal DNA tükenme sendromu 4b.
❓ Which medical field is mitokondriyal DNA tükenme sendromu 4b related to?
This term belongs to the Diseases category.