Departamento de Ciencias Morfolóxicas
Fachbereich
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublikationen in Zusammenarbeit mit Forschern von Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)
2016
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Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
Brain and Development, Vol. 38, Núm. 1, pp. 167-172
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Erratum: Corrigendum to “Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene” (Brain and Development (2016) 38(1) (167–172) (S0387760415001023) (10.1016/j.braindev.2015.05.008))
Brain and Development
2014
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Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion
European Journal of Paediatric Neurology, Vol. 18, Núm. 6, pp. 796-800