Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

Autor: Vernengo, Luis, Chourbagi, Oussama, Panuncio, Ana, Lilienbaum, Alain, Batonnet-Pichon, Sabrina, Bruston, Francine, Rodrigues-Lima, Fernando, Mesa, Rosario, Pizzarossa, Carlos, Demay, Laurence, Richard, Pascale, Vicart, Patrick, Rodriguez, Maria-Mirta
Zdroj: In Neuromuscular Disorders 2010 20(3):178-187
Databáze: ScienceDirect