ReviewActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology2016
Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.
Review in Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Characterizing health state utilities associated with Duchenne muscular dystrophy: a systematic review.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2020Pooled it
- Confirmatory long-term efficacy and safety results of ataluren in patients with nmDMD from Study 041, an international, randomized, double-blind, placebo-controlled, Phase III trial.Journal of comparative effectiveness research · 2025Trial
- The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.Journal of neuromuscular diseases · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.Journal of neurology · 2023Article
- Comprehensive Molecular Analysis ofDiagnostics (Basel, Switzerland) · 2021Article
- Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing.Frontiers in genetics · 2021Article
- Precision Medicine in Rare Diseases.Diseases (Basel, Switzerland) · 2020Review
- Genetic modifiers of respiratory function in Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2020Article
- Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.Journal of comparative effectiveness research · 2020Article
- Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.Journal of cachexia, sarcopenia and muscle · 2020Article
- Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.Molecular genetics & genomic medicine · 2020Article
- Article
- A pattern-based approach to the interpretation of skeletal muscle biopsies.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Review
- Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD.Molecular therapy. Nucleic acids · 2018Article
- Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients.Journal of human genetics · 2018Article
- Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.PloS one · 2018Article
- Muscular Dystrophy: A Retrospective Evaluation of 15 Cases.Sisli Etfal Hastanesi tip bulteni · 2018Article
- Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X-linked muscular dystrophy in a cat.Journal of veterinary internal medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between Duchenne, Becker, or intermediate muscular dystrophy is not obvious. As molecular treatments aimed at dystrophin restoration in DMD are increasingly available as commercialized drugs or within clinical trials, genetic diagnosis has become an indispensable tool in order to determine eligibility for these treatments. DMD patients in which multiplex ligation-dependent probe amplification (MLPA) or similar techniques show a deletion suitable to exon skipping of exons 44, 45, 51, or 53, may be currently treated with AONs targeting these exons, in the context of clinical trials, or, as is the case for exon 51 skipping in the United States, with the first commercialized drug (eteplirsen). Patients who test negative at MLPA, but in whom
Indexed as
Identifiers
28484312PMC5416739W2611174190What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.