Exon 46-48 Deletion of DMD Gene - A Boon in Beckers Muscular Dystrophy

Authors

  • Trimal Kulkarni Department of Paediatrics, Shri B M Patil Medical College Hospital and Research Centre, Vijayapur, Karnataka, India
  • Siddu Charki Department of Paediatrics, Shri B M Patil Medical College Hospital and Research Centre, Vijayapur, Karnataka, India
  • Siddarameshwar S Kalyanshettar Department of Paediatrics, Shri B M Patil Medical College Hospital and Research Centre, Vijayapur, Karnataka, India
  • Shankargouda V Patil Department of Paediatrics, Shri B M Patil Medical College Hospital and Research Centre, Vijayapur, Karnataka, India
  • Mallangouda M Patil Department of Paediatrics, Shri B M Patil Medical College Hospital and Research Centre, Vijayapur, Karnataka, India

Keywords:

Becker's Muscular Dystrophy (BMD), exon deletion 46-48, next generation sequencing

Abstract

Becker's muscular dystrophy (BMD) has wide spectrum of presentation from asymptomatic to severe progressive muscular weakness. Subtle weakness can be missed in busy outpatient units. Traditionally muscle biopsy is used for definitive diagnosis. But it is invasive and less helpful in genetic counseling of inherited dystrophinopathies compared to genetic studies. Newer techniques like next generation sequencing (NGS) also help in understanding many phenotype-genotype co-relations. We describe here a seven year boy who presented with mild weakness, without any evidence of cardiomyopathy and had exon 46 - 48 deletion on NGS.

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Published

2021-11-03

Issue

Vol. 41 No. 2 (2021)

Section

Case Reports

License

Copyright (c) 2021 Trimal Kulkarni, Siddu Charki , Siddarameshwar S Kalyanshettar, Shankargouda V Patil, Mallangouda M Patil

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.