Publicaciones en colaboración con investigadores/as de Hospitais da Universidade de Coimbra (3)

2020

  1. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

    Acta Myologica, Vol. 39, Núm. 1, pp. 24-28

2018

  1. Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

    Acta Myologica, Vol. 37, Núm. 2, pp. 117-120

  2. SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

    Acta Myologica