Advances in genetic characterization and genotype–phenotype correlation of Duchenne and Becker muscular dystrophy in the personalized medicine era

O Sheikh, T Yokota - Journal of Personalized Medicine, 2020 - mdpi.com
Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular
dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing …

Enzyme-assisted nucleic acid amplification in molecular diagnosis: a review

M Wang, H Liu, J Ren, Y Huang, Y Deng, Y Liu, Z Chen… - Biosensors, 2023 - mdpi.com
Infectious diseases and tumors have become the biggest medical challenges in the 21st
century. They are driven by multiple factors such as population growth, aging, climate …

Spectrum of genetic variants in the dystrophin gene: A single centre retrospective analysis of 750 Duchenne and Becker patients from southern Italy

E Viggiano, E Picillo, L Passamano, ME Onore… - Genes, 2023 - mdpi.com
Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the
dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct …

[HTML][HTML] Gene therapy for selected neuromuscular and trinucleotide repeat disorders–An insight to subsume South Asia for multicenter clinical trials

N Wijekoon, L Gonawala, P Ratnayake… - IBRO Neuroscience …, 2023 - Elsevier
Background In this article, the authors discuss how they utilized the genetic mutation data in
Sri Lankan Duchenne muscular dystrophy (DMD), Spinal muscular atrophy (SMA) …

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity

K Kekou, M Svingou, N Vogiatzakis… - Expert Review of …, 2023 - Taylor & Francis
Background Persistent hyperCKemia results from muscle dysfunction often attributed to
genetic alterations of muscle-related genes, such as the dystrophin gene (DMD) …

molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting

N Wijekoon, L Gonawala, P Ratnayake… - European Journal of …, 2024 - Springer
Abstract Background The phenotype of Duchenne muscular dystrophy (DMD) and Becker
muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its …

Next-generation sequencing in a cohort of Asian Indian patients with the Duchenne muscular dystrophy phenotype: diagnostic yield and mutation spectrum

G Nerakh, P Ranganath… - Journal of Pediatric …, 2021 - thieme-connect.com
Multiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and
duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular …

[PDF][PDF] Genetic Landscape of Dystrofin Gene Deletions and duplications from Turkey: a single Center experience

B ÇAVDARLI, ÖK YAYICI, AC Ceylan… - Türkiye Çocuk …, 2021 - dergipark.org.tr
Objective: Dystrophinopathies are the most frequently researched neuromuscular disease
group due to their characteristic and diverse clinical and genetic spectrum. This study aims …

Comparison of the carrier frequency of pathogenic variants of DMD gene in an Indian Cohort

D Nagabushana, K Polavarapu… - Journal of …, 2021 - content.iospress.com
Background: Duchenne muscular dystrophy (DMD) is an X-linked disorder caused due to
large deletions, duplications, and small pathogenic variants. This article compares the …

Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

KM Patel, AD Bhatt, K Shah, BN Waghela… - Frontiers in …, 2021 - frontiersin.org
Muscular Dystrophies (MDs) are a group of inherited diseases and heterogeneous in nature.
To date, 40 different genes have been reported for the occurrence and/or progression of …