The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
The importance of genetic diagnosis for Duchenne muscular dystrophy
Open accessAbstract
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.
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Cites
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70271-6 · Cited by 2,053
Self-citationPrevalence of Muscular Dystrophies: A Systematic Literature Review
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Emery, A. E. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07815-7 · Cited by 1,667
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
Koenig, M., Monaco, A. P., & Kunkel, L. M. (1988) · Cell · doi:10.1016/0092-8674(88)90383-2 · Cited by 1,538
Bushby, K., Finkel, R., Birnkrant, D. J., Case, L. E., Clemens, P. R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70272-8 · Cited by 1,172
Self-citationDystrophin and mutations: one gene, several proteins, multiple phenotypes
Muntoni, F., Torelli, S., & Ferlini, A. (2003) · The Lancet Neurology · doi:10.1016/s1474-4422(03)00585-4 · Cited by 1,124
Evidence-based path to newborn screening for Duchenne muscular dystrophy
Mendell, J. R., Shilling, C., Leslie, N. D., Flanigan, K. M., al‐Dahhak, R., Gastier‐Foster, J., Kneile, K., Dunn, D. M., Duval, B., Aoyagi, A., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23528 · Cited by 813
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Self-citationThe TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
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Self-citationDetection of 98% of DMD/BMD gene deletions by polymerase chain reaction
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Cited by
Duan, D., Goemans, N., Takeda, S., Mercuri, E., & Aartsma-Rus, A. (2021) · Nature Reviews Disease Primers · doi:10.1038/s41572-021-00248-3 · Cited by 1,312
Self-citationLi, G., Jin, M., Li, Z., Xiao, Q., Lin, J., Yang, D., Liu, Y., Wang, X., Xie, L., Ying, W., et al. (2023) · Journal of Clinical Investigation · doi:10.1172/jci162809 · Cited by 44
Liu, G., Lipari, P., Mollin, A., Jung, S., Teplova, I., Li, W., Ying, L., More, V., Lennox, W., Yeh, S., et al. (2024) · Human Molecular Genetics · doi:10.1093/hmg/ddad173 · Cited by 23
Metadata
- Authors
- Aartsma-Rus, A., Ginjaar, I. B., & Bushby, K.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2016-01-11
- Volume
- 53
- Issue
- 3
- Pages
- 145-151
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2285063843
- Cited by
- 369
- References
- 41
- FWCI
- 15.50
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Aartsma-Rus, A., Ginjaar, I. B., & Bushby, K. (2016). The importance of genetic diagnosis for Duchenne muscular dystrophy. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2015-103387
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