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Several individuals with\n                      <jats:italic>TRAPPC11<\/jats:italic>\n                      mutations have been reported with muscle weakness and other features including brain, liver, skeletal and eye involvement. A detailed analysis of brain and muscle pathology will further our understanding of the presentation and aetiology of\n                      <jats:italic>TRAPPC11<\/jats:italic>\n                      disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We describe five cases of early\u2010onset\n                      <jats:italic>TRAPPC11<\/jats:italic>\n                      \u2010related muscular dystrophy with a systematic review of muscle pathology in all five individuals, post\u2010mortem brain pathology findings in one and membrane trafficking assays in another.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All affected individuals presented in infancy with muscle weakness, motor delay and elevated serum creatine kinase (CK). Additional features included cataracts, liver disease, intellectual disability, cardiomyopathy, movement disorder and structural brain abnormalities. Muscle pathology in all five revealed dystrophic changes, universal hypoglycosylation of alpha\u2010dystroglycan and variably reduced dystrophin\u2010associated complex proteins. Membrane trafficking assays showed defective Golgi trafficking in one individual. Neuropathological examination of one individual revealed cerebellar atrophy, granule cell hypoplasia, Purkinje cell (PC) loss, degeneration and dendrite dystrophy, reduced alpha\u2010dystroglycan (IIH6) expression in PC and dentate neurones and absence of neuronal migration defects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This report suggests that recessive mutations in\n                      <jats:italic>TRAPPC11<\/jats:italic>\n                      are linked to muscular dystrophies with hypoglycosylation of alpha\u2010dystroglycan. The structural cerebellar involvement that we document for the first time resembles the neuropathology reported in\n                      <jats:italic>N<\/jats:italic>\n                      \u2010linked congenital disorders of glycosylation (CDG) such as\n                      <jats:italic>PMM2<\/jats:italic>\n                      \u2010CDG, suggesting defects in multiple glycosylation pathways in this condition.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nan.12771","type":"journal-article","created":{"date-parts":[[2021,10,16]],"date-time":"2021-10-16T09:06:52Z","timestamp":1634375212000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["<i>TRAPPC11<\/i>\n                    \u2010related muscular dystrophy with hypoglycosylation of alpha\u2010dystroglycan in skeletal muscle and brain"],"prefix":"10.1111","volume":"48","author":[{"given":"Pinki","family":"Munot","sequence":"first","affiliation":[{"name":"Dubowitz Neuromuscular Centre Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"McCrea","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre Great Ormond Street Hospital for Children NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8840-6835","authenticated-orcid":false,"given":"Silvia","family":"Torelli","sequence":"additional","affiliation":[{"name":"UCL, Dubowitz Neuromuscular Centre Great Ormond Street Institute of Child Health  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Manzur","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre Great Ormond Street Hospital for Children NHS 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