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Distal Myopathy Due to Digenic Inheritance of TIA1 and SQSTM1 Variants in Two Unrelated Spanish Patients.

Laura Bermejo-Guerrero,Carlos Pablo de Fuenmayor Fernandez-de la Hoz,Lidia Gonzalez-Quereda,Alba Segarra-Casas,Velina Nedkova,Pia Gallano,Paloma Martin-Jimenez,Aurelio Hernandez-Lain,Montse Olive,Ana Arteche-Lopez,Cristina Dominguez-Gonzalez

NEUROMUSCULAR DISORDERS（2023）

Cited 1|Views33

Key words

Welander distal myopathy,Digenic inheritance,SQSTM1,TIA1,Rimmed vacuolar myopathy

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