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Karthik, T. and Ranganath, P. and Ramachandran, A. and Uppin, M.S. and Sreeja, P. and Aggarwal, Shagun and Lakshmi, D. and Meena, A.K. and Dalal, Ashwin (2019) Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India. Indian Pediatrics, 56 (7). pp. 556-559. ISSN 0019-6061

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OBJECTIVE: To study the histopathological characteristics and mutation spectrum of patients presenting with the Duchenne muscular dystrophy (DMD) phenotype. METHODS: This was a descriptive study conducted over a period of 8 years. Multiplex ligation-dependent probe amplification (MLPA) was done in patients presenting with the DMD phenotype. If MLPA was negative, patients were offered muscle biopsy for histopathological studies and/or next generation sequencing (NGS) based multigene panel testing for muscular dystrophies. RESULTS: Of the 510 patients included, mutation in the DMD gene was detected by MLPA in 372 (72.9%), of whom 342 (67.1%) had exonic deletions and 30 (5.9%) had exonic duplications. Exons 45-55 were most commonly involved in large deletions and exons 1-10 were the commonest exons involved in duplications. In the MLPA-negative cohort, 27 proceeded for muscle biopsy. NGS was done in 14 patients, 10 of whom had pathogenic mutations in the DMD gene, 3 were non dystrophinopathies and no pathogenic variant could be identified in one patient. CONCLUSIONS: For patients presenting with the DMD phenotype, MLPA of the DMD gene has a high diagnostic rate of about 73%, and non-dystrophinopathies may constitute a small but significant proportion.

Item Type: Article
Uncontrolled Keywords: Diagnosis; Histopathology; Multiplex ligation-dependent probe amplification; Neuromuscular disorders; Next generation sequencing
Subjects: Genetics
Depositing User: Dr P Divakar
Date Deposited: 26 Jul 2019 08:56
Last Modified: 26 Jul 2019 08:56
URI: http://cdfd.sciencecentral.in/id/eprint/910

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