Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.
Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch R, Roca I, Ruiz-Pesini E, Couce ML, et al. Eur J Hum Genet. 2016 Jan; 25(1):153-156. Epub 2016 Sep 28.