Condition: Hereditary Myopathy with Early Respiratory Failure


rs753334568 in TTN-AS1;TTN gene and Hereditary Myopathy with Early Respiratory Failure PMID 24231549 2014 Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.

PMID 23486992 2014 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.

PMID 23606733 2014 Hereditary myopathy with early respiratory failure: occurrence in various populations.

rs574660186 in TTN;TTN-AS1 gene and Hereditary Myopathy with Early Respiratory Failure PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.