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We recruited patients from 36 tertiary academic hospitals in China. In total, 143 patients with genetically diagnosed dystroglycanopathy were enrolled. Of these, limb girdle muscular dystrophy was the most common initial diagnosis (83 patients) and Walker\u2010Warburg syndrome was the least common (1 patient). In 143 patients, mutations in\n                    <jats:italic>FKRP<\/jats:italic>\n                    gene were the most prevalent (62 patients), followed by\n                    <jats:italic>POMT2<\/jats:italic>\n                    ,\n                    <jats:italic>POMT1<\/jats:italic>\n                    (16),\n                    <jats:italic>POMGNT1<\/jats:italic>\n                    ,\n                    <jats:italic>ISPD<\/jats:italic>\n                    (14),\n                    <jats:italic>FKTN<\/jats:italic>\n                    ,\n                    <jats:italic>GMPPB<\/jats:italic>\n                    ,\n                    <jats:italic>B3GALNT2<\/jats:italic>\n                    ,\n                    <jats:italic>DPM3<\/jats:italic>\n                    , and\n                    <jats:italic>DAG1<\/jats:italic>\n                    . Several frequent mutations were identified in\n                    <jats:italic>FKRP<\/jats:italic>\n                    ,\n                    <jats:italic>POMT1<\/jats:italic>\n                    ,\n                    <jats:italic>POMGNT1<\/jats:italic>\n                    ,\n                    <jats:italic>ISPD<\/jats:italic>\n                    , and\n                    <jats:italic>FKTN<\/jats:italic>\n                    genes. Many of these were founder mutations. Patients with\n                    <jats:italic>FKRP<\/jats:italic>\n                    mutations tended to have milder phenotypes, while those with mutations in\n                    <jats:italic>POMGNT1<\/jats:italic>\n                    genes had more severe phenotypes. Mental retardation was a clinical feature associated with mutations of\n                    <jats:italic>POMT1<\/jats:italic>\n                    gene. Detailed clinical data of 83 patients followed up in Peking University First Hospital were further analyzed. Our clinical and genetic analysis of a large cohort of Chinese patients with dystroglycanopathy expanded the genotype variation and clinical spectrum of congenital muscular dystrophies.\n                  <\/jats:p>","DOI":"10.1111\/cge.13886","type":"journal-article","created":{"date-parts":[[2020,11,16]],"date-time":"2020-11-16T22:09:01Z","timestamp":1605564541000},"page":"384-395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients"],"prefix":"10.1111","volume":"99","author":[{"given":"Danyu","family":"Song","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Neurology, Peking Union Medical College Hospital 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