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Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.
Neuromuscul Disord. 2010 Apr; 20(4):251-4.ND

Abstract

Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. The mild phenotype encourages further development of exon 51 skipping therapy.

Authors+Show Affiliations

Center for Human and Clinical Genetics, The Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands. Helderman@lumc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20153965

Citation

Helderman-van den Enden, A T J M., et al. "Becker Muscular Dystrophy Patients With Deletions Around Exon 51; a Promising Outlook for Exon Skipping Therapy in Duchenne Patients." Neuromuscular Disorders : NMD, vol. 20, no. 4, 2010, pp. 251-4.
Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, et al. Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. Neuromuscul Disord. 2010;20(4):251-4.
Helderman-van den Enden, A. T., Straathof, C. S., Aartsma-Rus, A., den Dunnen, J. T., Verbist, B. M., Bakker, E., Verschuuren, J. J., & Ginjaar, H. B. (2010). Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. Neuromuscular Disorders : NMD, 20(4), 251-4. https://doi.org/10.1016/j.nmd.2010.01.013
Helderman-van den Enden AT, et al. Becker Muscular Dystrophy Patients With Deletions Around Exon 51; a Promising Outlook for Exon Skipping Therapy in Duchenne Patients. Neuromuscul Disord. 2010;20(4):251-4. PubMed PMID: 20153965.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. AU - Helderman-van den Enden,A T J M, AU - Straathof,C S M, AU - Aartsma-Rus,A, AU - den Dunnen,J T, AU - Verbist,B M, AU - Bakker,E, AU - Verschuuren,J J G M, AU - Ginjaar,H B, Y1 - 2010/02/13/ PY - 2009/07/18/received PY - 2009/12/21/revised PY - 2010/01/26/accepted PY - 2010/2/16/entrez PY - 2010/2/16/pubmed PY - 2010/7/30/medline SP - 251 EP - 4 JF - Neuromuscular disorders : NMD JO - Neuromuscul Disord VL - 20 IS - 4 N2 - Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. The mild phenotype encourages further development of exon 51 skipping therapy. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/20153965/Becker_muscular_dystrophy_patients_with_deletions_around_exon_51 L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(10)00052-0 DB - PRIME DP - Unbound Medicine ER -