Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene

Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene

Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and specul...

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Bibliographic Details
Main Authors: Malhotra Hardeep, Juyal Ratish, Malhotra Kiran, Shukla Rakesh
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2011-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
Dystrophin
genetics
muscular dystrophy
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2011;volume=14;issue=1;spage=47;epage=49;aulast=Malhotra

Internet

http://www.annalsofian.org/article.asp?issn=0972-2327;year=2011;volume=14;issue=1;spage=47;epage=49;aulast=Malhotra

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