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

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...

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Detalles Bibliográficos
Autores principales:	Işıkay, Sedat, Şirikçi, Akif
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413589/ https://www.ncbi.nlm.nih.gov/pubmed/30937090 http://dx.doi.org/10.4103/JPN.JPN_36_18

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