Publicacións nas que colabora con Cristina Domínguez González (3)

2019

  1. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

2016

  1. A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation

    Muscle and Nerve, Vol. 54, Núm. 4, pp. 806-808

  2. Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

    Neuromuscular Disorders, Vol. 26, Núm. 11, pp. 749-753