TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

The limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic disorders characterized by progressive proximal weakness with dystrophic changes on muscle biopsy [1,2]. Several LGMD genes have been associated with cardiomyopathy and/or arrhythmias [3–5], whereby providing a genetic diagnosis for LGMD patients is crucial for institution of appropriate cardiac surveillance and preventing complications. Mutations in torsinA-interacting protein 1 (TOR1AIP1) gene have previously been reported in two families: a consanguineous Turkish family with recessive LGMD, mild dilated cardiomyopathy, restrictive lung disease [6] and a consanguineous Moroccan family with severe dystonia, cerebellar atrophy and cardiomyopathy [7].

Source: Neuromuscular Disorders - May 23, 2016 Category: Neurology Authors: Roula Ghaoui, Tatiana Benavides, Monkol Lek, Leigh B. Waddell, Simranpreet Kaur, Kathryn N. North, Daniel G. MacArthur, Nigel F. Clarke, Sandra T. Cooper Tags: Case report Source Type: research