TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy
| Autor: | Sandra T. Cooper, Tatiana Benavides, Simranpreet Kaur, Leigh B. Waddell, Monkol Lek, Nigel F. Clarke, Roula Ghaoui, Daniel G. MacArthur, Kathryn N. North |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Weakness medicine.medical_specialty Adolescent Limb girdle medicine.disease_cause Young Adult 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Family Muscular dystrophy Muscle Skeletal Myopathy Genetics (clinical) Heart Failure Mutation business.industry Myocardium Dilated cardiomyopathy medicine.disease Phenotype 030104 developmental biology Muscular Dystrophies Limb-Girdle Neurology Heart failure Pediatrics Perinatology and Child Health cardiovascular system Cardiology Female Neurology (clinical) medicine.symptom Carrier Proteins business 030217 neurology & neurosurgery Limb-girdle muscular dystrophy |
| Zdroj: | Neuromuscular Disorders. 26:500-503 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2016.05.013 |
| Popis: | 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 expand the phenotype of this gene to demonstrate the cardiac involvement and the importance of cardiac surveillance in patients with mutations in TOR1AIP1. |
| Databáze: | OpenAIRE |
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