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Article

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

Neuromuscular disorders : NMD - 1 Aug 2016

Ghaoui Roula, Benavides Tatiana, Lek Monkol, Waddell Leigh B, Kaur Simranpreet, North Kathryn N, MacArthur Daniel G, Clarke Nigel F, Cooper Sandra T

Abstract excerpt

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...

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Identifiers

PMID: 27342937
DOI: 10.1016/j.nmd.2016.05.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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