Duchenne muscular dystrophy
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://www.nature.com/articles/s41572-021-00248-3.pdf
Reference220 articles.
1. Mercuri, E., Bonnemann, C. G. & Muntoni, F. Muscular dystrophies. Lancet 394, 2025–2038 (2019). Comprehensive overview of the clinical and genetic aspects of muscular dystrophies.
2. Aartsma-Rus, A., Van Deutekom, J. C. T., Fokkema, I. F., Van Ommen, G. J. B. & Den Dunnen, J. T. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 34, 135–144 (2006).
3. Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S., Moser, H. & Kunkel, L. M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2, 90–95 (1988).
4. García-Rodríguez, R. et al. Premature termination codons in the DMD gene cause reduced local mRNA synthesis. Proc. Natl Acad. Sci. USA 117, 16456–16464 (2020).
5. Mendell, J. R. et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann. Neurol. 71, 304–313 (2012).
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