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The aim of this work was to determine the frequency and distribution of these mutations throughout Spain, to\u00a0provide a comprehensive\u00a0phenotypical description and, if possible, to establish a genotype\u2013phenotype correlation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospectively, data on patients diagnosed with CMT2Z in Spain were\u00a0collected and clinical, electrophysiological and muscle imaging information were analysed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fifteen patients with CMT2Z were identified throughout Spain, seven of them belonging to a single kindred, whilst the rest were sporadic. The most common mutation was p.R252W, and four new mutations were identified. Eleven patients were categorized as having a scapuloperoneal phenotype, with asymmetric muscle weakness, early proximal upper limb involvement and frequent spontaneous muscular activity with distal sensory impairment and pes cavus, whilst two presented with a more classic length dependent sensory motor phenotype. This distinction was corroborated by the distribution of muscle\u00a0fatty infiltration in muscle imaging. Two other patients were classified as having a neurodevelopmental phenotype consisting in congenital or early onset, delay in motor milestones, and global developmental delay in one of them. Nerve conduction studies revealed an unequivocally axonal neuropathy with frequent spontaneous activity, and serum creatine kinase levels were increased in 50% of the patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>MORC2<\/jats:italic>\n                      mutations are a rare cause of CMT in Spain, but in\u2010depth phenotyping reveals a recognizable phenotypic spectrum that will be clinically relevant for future identification of this disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.15001","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T23:18:41Z","timestamp":1625095121000},"page":"3001-3011","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Charcot\u2013Marie\u2013Tooth disease due to\n                    <i>MORC2<\/i>\n                    mutations in Spain"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2810-1180","authenticated-orcid":false,"given":"Rafael","family":"Sivera","sequence":"first","affiliation":[{"name":"Department of Neurology Hospital Francesc de Borja Gand\u00eda Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3774-9854","authenticated-orcid":false,"given":"Vincenzo","family":"Lupo","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurodegenerative Diseases Felipe Centro de Investigaci\u00f3n Pr\u00edncipe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7206-5362","authenticated-orcid":false,"given":"Marina","family":"Frasquet","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"},{"name":"Neuromuscular and Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8537-1318","authenticated-orcid":false,"given":"Herminia","family":"Argente\u2010Escrig","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit Department of Neurology Hospital Universitari i Polit\u00e8cnic La Fe Valencia Spain"},{"name":"Neuromuscular and Ataxias Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III Madrid 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