Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2011  |  Volume : 14  |  Issue : 1  |  Page : 47-49

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


1 Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India
2 Chattrapati Shahuji Maharaj Medical University (Formerly King George's Medical University), Lucknow, India
3 Department of Pathology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Rae Bareilly Road, Lucknow, India

Correspondence Address:
Hardeep Singh Malhotra
Room No. 108, Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi - 110 095
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.78051

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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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