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A Child of Congenital Muscular Dystrophy-Dystroglycanopathy with Homozygous Missense Variation in Exon 3 of the ISPD Gene: A Rare Case from Odisha
Dystroglycanopathy is a type of congenital muscular dystrophy caused by mutations causing defective glycosylation of a dystrophin-associated glycoprotein, dystroglycan and as such is a very rare disease entity. We are reporting a 1-year-old girl child with dystroglycanopathy who presented with motor...
Autores principales: | Biswal, Sebaranjan, Panigrahi, Debasish, Mohakud, Nirmal Kumar, Kumar, Manoj, Swain, Natabara |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012863/ https://www.ncbi.nlm.nih.gov/pubmed/33816389 http://dx.doi.org/10.4103/abr.abr_141_19 |
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