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Exome sequencing and Sanger sequencing were performed on a six\u2010generation consanguineous Han Chinese family, members of which had autosomal recessive <jats:styled-content style=\"fixed-case\">MDDG<\/jats:styled-content>. Compound heterozygous mutations, c.1338+1G&gt;A (p.H415Kfs*3) and c.1457G&gt;C (p.W486S, rs746849558), in the protein O\u2010mannosyltransferase 1 gene (<jats:italic><jats:styled-content style=\"fixed-case\">POMT<\/jats:styled-content>1<\/jats:italic>), were identified as the genetic cause. Patients that exhibited milder <jats:styled-content style=\"fixed-case\">MDDG<\/jats:styled-content> manifested as later\u2010onset progressive proximal pelvic, shoulder girdle and limb muscle weakness, joint contractures, mental retardation and elevated creatine kinase, without structural brain or ocular abnormalities, were further genetically diagnosed as <jats:styled-content style=\"fixed-case\">MDDGC<\/jats:styled-content>1. The <jats:italic><jats:styled-content style=\"fixed-case\">POMT<\/jats:styled-content>1<\/jats:italic> gene splice\u2010site mutation (c.1338+1G&gt;A) which leads to exon 13 skipping and results in a truncated protein may contribute to a severe phenotype, while the allelic missense mutation (p.W486S) may reduce <jats:styled-content style=\"fixed-case\">MDDG<\/jats:styled-content> severity. These findings may expand phenotype and mutation spectrum of the <jats:italic><jats:styled-content style=\"fixed-case\">POMT<\/jats:styled-content>1<\/jats:italic> gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease.<\/jats:p>","DOI":"10.1111\/jcmm.13068","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T12:44:30Z","timestamp":1486125870000},"page":"1388-1393","source":"Crossref","is-referenced-by-count":20,"title":["Compound heterozygous <i><scp>POMT<\/scp>1<\/i> mutations in a Chinese family with autosomal recessive muscular dystrophy\u2010dystroglycanopathy C1"],"prefix":"10.1111","volume":"21","author":[{"given":"Pengzhi","family":"Hu","sequence":"first","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology The Third Xiangya Hospital Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Orthopedics The Third Xiangya Hospital Central 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