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...

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Detalles Bibliográficos
Autores principales: Biswal, Sebaranjan, Panigrahi, Debasish, Mohakud, Nirmal Kumar, Kumar, Manoj, Swain, Natabara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
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

Internet

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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