Article
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Neuromuscular disorders : NMD - 1 Sept 2024
Panos-Basterra Paula, Theuriet Julian, Nadaj-Pakleza Aleksandra, Magot Armelle, Lannes Beatrice, Marcorelles Pascale, Behin Anthony, Masingue Marion, Caillon Florence, Malek Yannis, Fenouil Tanguy, Bas Joaquim, Menassa Rita, Michel-Calemard Laurence, Streichenberger Nathalie, Simon Jean-Philippe, Bouhour Francoise, Evangelista Teresinha, Métay Corinne, Pegat Antoine, Stojkovic Tanya, Fernández-Eulate Gorka
Abstract excerpt
TIA1/SQSTM1 myopathy is one of the few digenic myopathies. We describe four new French adult male patients carrying the TIA1 p.Asn357Ser and SQSTM1 p.Pro392Leu variant and review the literature to include 20 additional cases to define the spectrum of the disease. These twenty-four patients (75% males) had late-onset (52,6 ± 10,1 years), mainly asymmetric, distal ankle and hand finger extension weakness (75%),...
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