This study describes a family with mutations in TOR1AIP1 TorsinA-interacting protein 1 (TOR1AIP1), a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. In this family, the noticeable clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular dystrophy. TOR1AIP1 protein was not expressed in cardiac and skeletal muscles of affected siblings. This study thus expands the phenotype of this gene to demonstrate the cardiac involvement and the importance of cardiac surveillance in patients with mutations in TOR1AIP1.
