Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

Author:

Bermejo-Guerrero LauraORCID,de Fuenmayor Fernández-de la Hoz Carlos Pablo,González-Quereda Lidia,Segarra-Casas Alba,Nedkova Velina,Gallano Pia,Martín-Jiménez Paloma,Hernández-Laín Aurelio,Olivé Montse,Arteche-López Ana,Domínguez-González CristinaORCID

Funder

Ministerio de Universidades

Federación Española de Enfermedades Raras

Instituto de Salud Carlos III

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Differential diagnosis of distal myopathies;Pract Neurol,2022

2. Savarese M., Sarparanta J., Vihola A., Jonson P.H., Johari M., Rusanen S., et al. Panorama of the distal myopathies n.d.:21.

3. The unfolding spectrum of inherited distal myopathies;Milone;Muscle Nerve,2019

4. Myopathy with SQSTM1 and TIA1 variants: clinical and pathological features;Niu;Front Neurol,2018

5. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations;Lee;J Clin Investigat,2018

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