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J Pediatr Neurosci. 2018 Oct-Dec;13(4):462-464. doi: 10.4103/JPN.JPN_36_18.

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.

Author information

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

Abstract

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.

KEYWORDS:

Child; dystroglycanopathy; muscular dystrophy

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