publicaciones seleccionadas artículo académico The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 19:215-225. 2018 Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 10:275-287. 2009 Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.. Neurological Research. 31:283-288. 2008 Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. Neuromuscular Disorders. 14:301-306. 2004 A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3. The American Journal of Human Genetics. 68:269-274. 2001
