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Article

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.

BMC medical genetics - 13 Jun 2017

Deepha Sekar, Vengalil Seena, Preethish-Kumar Veeramani, Polavarapu Kiran, Nalini Atchayaram, Gayathri Narayanappa, Purushottam Meera

Abstract excerpt

BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype. METHODS: In this study, 415 clinically diagnosed patients were tested for mutations by Multiplex ligation dependent probe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28610567
DOI: 10.1186/s12881-017-0431-6
PMCID: PMC5470271

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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