Mar García-Romero

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Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the genetics of which are poorly characterized. We designed a panel comprising 56 genes associated with Charcot-Marie-Tooth disease/hereditary motor(More)
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients.(More)
Análisis de minimización de costes del tratamiento de la espasticidad en niños con parálisis cerebral con toxina botulínica tipo A: un estudio observacional, longitudinal, retrospectivo Abstract Objective: Cost-minimization analysis of onabotulinumtoxinA and abobotulinumtoxinA, taking into account the real dose administered to children with spasticity(More)
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