Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
| Autor: | Malhotra Hardeep, Juyal Ratish, Malhotra Kiran, Shukla Rakesh |
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| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: | |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 14, Iss 1, Pp 47-49 (2011) |
| Druh dokumentu: | article |
| ISSN: | 0972-2327 1998-3549 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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