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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Autores principales: Malhotra, Hardeep Singh, Juyal, Ratish, Malhotra, Kiran Preet, Shukla, Rakesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108079/
https://www.ncbi.nlm.nih.gov/pubmed/21655206
http://dx.doi.org/10.4103/0972-2327.78051
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author Malhotra, Hardeep Singh
Juyal, Ratish
Malhotra, Kiran Preet
Shukla, Rakesh
author_facet Malhotra, Hardeep Singh
Juyal, Ratish
Malhotra, Kiran Preet
Shukla, Rakesh
author_sort Malhotra, Hardeep Singh
collection PubMed
description 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 speculate a relationship in this regard.
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spelling pubmed-31080792011-06-08 Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene Malhotra, Hardeep Singh Juyal, Ratish Malhotra, Kiran Preet Shukla, Rakesh Ann Indian Acad Neurol Case Report 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 speculate a relationship in this regard. Medknow Publications 2011 /pmc/articles/PMC3108079/ /pubmed/21655206 http://dx.doi.org/10.4103/0972-2327.78051 Text en © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Malhotra, Hardeep Singh
Juyal, Ratish
Malhotra, Kiran Preet
Shukla, Rakesh
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
title Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
title_full Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
title_fullStr Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
title_full_unstemmed Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
title_short Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
title_sort macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108079/
https://www.ncbi.nlm.nih.gov/pubmed/21655206
http://dx.doi.org/10.4103/0972-2327.78051
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