📂 Diseases
lamin A/C congenital muscular dystrophy — Definition
lamin A/C konjenital musküler distrofi / lamin A/C congenital muscular dystrophy
Lamin A/C is a rare muscle disease that is caused by mutations in the gene, pronounced from birth or early childhood. The disease occurs as a result of function disorder of lamin A and C proteins that provide structural integrity of muscle fibers. Clinically common muscle weakness is characterized by delay in hypotonia (low muscle tone) and motor development; also can develop life-threatening complications such as cardiac arrhythmias and respiratory failure.
Frequently Asked Questions
❓ What is lamin A/C konjenital musküler distrofi?
lamin A/C konjenital musküler distrofi; lamin A/C is a rare muscle disease that is caused by mutations in the gene, pronounced from birth or early childhood. The disease occurs as a result of function disorder of lamin A and C proteins that provide structural integrity of muscle fibers. Clinically common muscle weakness is characterized by delay in hypotonia (low muscle tone) and motor development; also can develop life-threatening complications such as cardiac arrhythmias and respiratory failure.
❓ What is lamin A/C congenital muscular dystrophy in Turkish?
The Turkish equivalent of "lamin A/C congenital muscular dystrophy" is lamin A/C konjenital musküler distrofi.
❓ Which medical field is lamin A/C konjenital musküler distrofi related to?
This term belongs to the Diseases category.