Associated Papers
Duchenne muscular dystrophy caused by a deletion (c.5021del) in exon 35 of the DMD gene: A case report and review of the literature.
Liu Y et al.
Heliyon, 2024
Dp71 Point Mutations Induce Protein Aggregation, Loss of Nuclear Lamina Integrity and Impaired Braf35 and Ibraf Function in Neuronal Cells.
Rugerio-Martínez CI et al.
International Journal of Molecular Sciences, 2022
Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.
Zimowski JG et al.
Journal of Applied Genetics, 2021
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
29973226 (PubMed )
Supplement: 13023_2018_853_MOESM1_ESM.pdf
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou J et al.
Bmc Bioinformatics, 2017
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
de Brouwer AP et al.
European Journal of Human Genetics : Ejhg, 2014
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J et al.
Plos One, 2013
A population-based study of dystrophin mutations in Canada.
Mah JK et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2011
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
Torella A et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Loss of a single amino acid from dystrophin resulting in Duchenne muscular dystrophy with retention of dystrophin protein.
Becker K et al.
Human Mutation, 2003
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