Publication: Exon 46-48 Deletion of DMD Gene - A Boon in Beckers Muscular Dystrophy
Date
2021
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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