Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

  1. Castro-Gago, M.
  2. Dacruz-Alvarez, D.
  3. Pintos-Martínez, E.
  4. Beiras-Iglesias, A.
  5. Delmiro, A.
  6. Arenas, J.
  7. Martín, M.Á.
  8. Martínez-Azorín, F.
Journal:
European Journal of Paediatric Neurology

ISSN: 1532-2130 1090-3798

Year of publication: 2014

Volume: 18

Issue: 6

Pages: 796-800

Type: Article

DOI: 10.1016/J.EJPN.2014.06.005 GOOGLE SCHOLAR

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