📂 Diseases
myopathy due to calsequestrin and SERCA1 protein overload — Definition
Kalsekestrin ve SERCA1 proteini birikimine bağlı miyopati / myopathy due to calsequestrin and SERCA1 protein overload
Calsekestrin and SERCA1 are a rare muscle disease, which consists of excessive accumulation in muscle cells. This leads to disruption of calcium balance, which plays a role in muscle contraction and relaxation. Clinically shows itself with muscle weakness, muscle cramps and exercise intolerance. The disease usually shows autozomal resessive inheritance and is put with diagnosis, genetic tests and muscle biopsy.
Frequently Asked Questions
❓ What is Kalsekestrin ve SERCA1 proteini birikimine bağlı miyopati?
Kalsekestrin ve SERCA1 proteini birikimine bağlı miyopati; calsekestrin and SERCA1 are a rare muscle disease, which consists of excessive accumulation in muscle cells. This leads to disruption of calcium balance, which plays a role in muscle contraction and relaxation. Clinically shows itself with muscle weakness, muscle cramps and exercise intolerance. The disease usually shows autozomal resessive inheritance and is put with diagnosis, genetic tests and muscle biopsy.
❓ What is myopathy due to calsequestrin and SERCA1 protein overload in Turkish?
The Turkish equivalent of "myopathy due to calsequestrin and SERCA1 protein overload" is Kalsekestrin ve SERCA1 proteini birikimine bağlı miyopati.
❓ Which medical field is Kalsekestrin ve SERCA1 proteini birikimine bağlı miyopati related to?
This term belongs to the Diseases category.