Mutation Spectrum of Dystrophin Gene in Malaysian Patients with Duchenne/Becker Muscular Dystrophy

@article{Rani2013MutationSO,
  title={Mutation Spectrum of Dystrophin Gene in Malaysian Patients with Duchenne/Becker Muscular Dystrophy},
  author={Abdul Qawee Mahyoob Rani and Teguh Haryo Sasongko and Sarina Sulong and David J. Bunyan and Abdul Razak Salmi and Bin Alwi Zilfalil and Masafumi Matsuo and Z A M H Zabidi-Hussin},
  journal={Journal of Neurogenetics},
  year={2013},
  volume={27},
  pages={11 - 15}
}
Abstract We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients. We found 27 patients with deletions of one or more exons, 2 patients with one exon duplication, 2 patients with nucleotide deletion, and 4 patients with nonsense mutations (including 1 patient with two nonsense mutations in the… 
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Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients
TLDR
This is the first comprehensive study showing the feasibility of implementing the MLPA method for routine screening of DMD patients in Indonesia and the potential applicability of exon skipping therapy in the majority of D MD cases in the country.
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy
  • S. Tomar, V. Moorthy, +4 authors P. Lai
  • Medicine, Biology
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2019
TLDR
Mutation screening is crucial for providing insights into the underlying genetic signature of the disease in the local population and contributes toward existing information on DMD mutations in Asia and globally and will guide future targeted drug development and clinical trial planning for this disease.
Comparison of Mutation Profiles in the Duchenne Muscular Dystrophy Gene among Populations: Implications for Potential Molecular Therapies
TLDR
Compared the mutation profiles of the populations represented in the DMD Leiden Open-source Variation Database with original data from Mexican patients with clinical diagnosis of the disease, this is the first comprehensive comparison of theoretical applicability of exon skipping targets among specific populations.
Four nucleotide deletions of exon 47 in Dystrophin gene: A case report of a Kelantanese Duchenne Muscular Dystrophy patient
TLDR
The genetic cause of Duchenne Muscular Dystrophy is reported in Malaysia in an 11-year-old Kelantanese Malay boy who has progressive muscle weakness since 5 years old and who has difficulty in getting up from sitting and supine position also in climbing up stairs  until 1st floor.
Dystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.
TLDR
It is concluded that mutational changes in the structure of hydrophobic regions of dystrophin play an important role in the pathogenesis of DMD.
Diagnóstico molecular de enfermedades neuromusculares en el Instituto Nacional de Rehabilitación, situación actual y perspectivas Molecular diagnosis of neuromuscular diseases at the Instituto Nacional de Rehabilitación (National Institute of Rehabilitation), current situation and prospects
TLDR
In Mexico, around six million people have some kind of disability, of which neuromuscular diseases remain one of the most common causes of inability and death; therefore, many cases are identified belatedly or not diagnosed at all, due to lack economic resources or the absence of specialized study centers.
Diagnóstico molecular de enfermedades neuromusculares en el Instituto Nacional de Rehabilitación, situación actual y perspectivas
TLDR
This article offers a general description of the most frequent neuromuscular disorders in Mexico and outlines their clinical and genetic variability, which impact in an effective diagnosis.
Evidence‐Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

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