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CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin\u2010related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      There were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more\u2010severe disease than CMT4B2, with earlier onset, more\u2010frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the\n                      <jats:italic>MTMR2<\/jats:italic>\n                      and\n                      <jats:italic>MTMR13<\/jats:italic>\n                      genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2\/13 proteins for such mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>This is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.25500","type":"journal-article","created":{"date-parts":[[2019,5,9]],"date-time":"2019-05-09T13:39:05Z","timestamp":1557409145000},"page":"55-67","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["A multicenter retrospective study of charcot\u2010marie\u2010tooth disease type 4B (CMT4B) associated with mutations in myotubularin\u2010related proteins (MTMRs)"],"prefix":"10.1002","volume":"86","author":[{"given":"Davide","family":"Pareyson","sequence":"first","affiliation":[{"name":"Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile de France  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Leonard\u2010Louis","sequence":"additional","affiliation":[{"name":"H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, AP\u2010HP Centre de r\u00e9f\u00e9rence des maladies neuromusculaires Nord\/Est\/Ile de France  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laur\u00e0","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Blake","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology  London United Kingdom"},{"name":"Department of Clinical Neurophysiology Norfolk and Norwich University Hospital  Norfolk United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yesim","family":"Parman","sequence":"additional","affiliation":[{"name":"Istanbul University, Istanbul Faculty of Medicine Neurology Dep. 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