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.