Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

Seidahmed, M. Z., Salih, M. A., Abdelbasit, O. B., Alassiri, A. H., Hussein, K. A., Miqdad, A., … Alkuraya, F. S. (2016, August 1). Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. American Journal of Medical Genetics, Part A. Wiley-Liss Inc. https://doi.org/10.1002/ajmg.a.37768