Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2018  |  Volume : 13  |  Issue : 4  |  Page : 462--464

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


Sedat Isikay, Akif Şirikçi 
 Department of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep, Turkey, 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

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.


How to cite this article:
Isikay S, Şirikçi A. Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene.J Pediatr Neurosci 2018;13:462-464


How to cite this URL:
Isikay S, Şirikçi A. Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene. J Pediatr Neurosci [serial online] 2018 [cited 2020 Sep 19 ];13:462-464
Available from: http://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2018;volume=13;issue=4;spage=462;epage=464;aulast=Isikay;type=0