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 CASE REPORT
Year : 2018  |  Volume : 13  |  Issue : 4  |  Page : 462-464

Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene


1 Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep, Turkey, Department of Radiology, Medical Park Hospital, Gaziantep, Turkey
2 Department of Radiology, Medical Park Hospital, Gaziantep, Turkey

Correspondence Address:
Dr. Sedat Isikay
Department of Pediatric Neurology, Medical Park Hospital, 52063 street, Şehitkamil, Gaziantep. Tel: +90 (342) 211 16 00, GSM: +90 546 848 1977, Fax: +90 (342) 324 88 60
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_36_18

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Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular α-dystroglycan to its extracellular matrix ligands. O-mannose β-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of α-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on O-mannose β-1,2-N-acetylglucosaminyltransferase 1 gene, which was not reported before in literature.






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