Associated Papers
Rare DMD Gene Duplication in a Lebanese Child With Duchene Muscular Dystrophy.
Assaf N et al.
Clinical Case Reports, 2026
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Ozkalayci H et al.
Neurogenetics, 2024
Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.
Ling C et al.
Iscience, 2023
38047063 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Ling C et al.
Human Mutation, 2020
31705731 (PubMed )
Supplement: HUMU-41-668-s002.xlsx › Sheet1
X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations.
He WB et al.
Prenatal Diagnosis, 2019
Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29.
Finsterer J et al.
Intractable & Rare Diseases Research, 2018
Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.
Punetha J et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2016
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.
Hwa HL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007
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