ArticleJournal of pediatric neurosciences
Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in
Article in Journal of pediatric neurosciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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2 authors at 2 institutions in 1 country.
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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.
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