A child of congenital muscular dystrophy-dystroglycanopathy with homozygous missense variation in exon 3 of the ISPD Gene: A rare case from Odisha

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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Bibliographic Details
Main Authors: Sebaranjan Biswal, Debasish Panigrahi, Nirmal Kumar Mohakud, Manoj Kumar, Natabara Swain
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Advanced Biomedical Research
Subjects:
cysts in cerebellum
dystroglycanopathies
generalized hypotonia
muscle-eye-brain
odisha
Online Access:http://www.advbiores.net/article.asp?issn=2277-9175;year=2020;volume=9;issue=1;spage=70;epage=70;aulast=Biswal

Internet

http://www.advbiores.net/article.asp?issn=2277-9175;year=2020;volume=9;issue=1;spage=70;epage=70;aulast=Biswal

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