TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy
R Ghaoui, T Benavides, M Lek, LB Waddell… - Neuromuscular …, 2016 - Elsevier
Abstract TorsinA-interacting protein 1 (TOR1AIP1) gene is a novel gene that has recently
been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated
cardiomyopathy. We report a family with mutations in TOR1AIP1 where the striking clinical
feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to
musculoskeletal weakness and muscular dystrophy. We demonstrate an absence of
TOR1AIP1 protein expression in cardiac and skeletal muscles of affected siblings. We …
been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated
cardiomyopathy. We report a family with mutations in TOR1AIP1 where the striking clinical
feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to
musculoskeletal weakness and muscular dystrophy. We demonstrate an absence of
TOR1AIP1 protein expression in cardiac and skeletal muscles of affected siblings. We …