Neuromuscular Disorders
Volume 19, Issue 12 , Pages 833-836 , December 2009

Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathy

  • Gittan Kollberg

      Affiliations

    • Corresponding Author InformationCorresponding author. Address: Department of Clinical Chemistry, Sahlgrenska University Hospital, Bruna stråket 16, SE-413 45 Göteborg, Sweden. Tel.: +46 31 3427971; fax: +46 31 827610.
    • ,
  • Elisabeth Holme

Received 3 July 2009 ,Revised 8 September 2009 ,Accepted 30 September 2009.

References 

  1. Mochel F, Knight MA, Tong WH, et al. Splice mutation in the iron–sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008;82:652–660
  2. Olsson A, Lind L, Thornell LE, Holmberg M. Myopathy with lactic acidosis is linked to chromosome 12q23.3–24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect. Hum Mol Genet. 2008;17:1666–1672
  3. Kollberg G, Tulinius M, Melberg A, et al. Clinical manifestation and a new ISCU mutation in iron–sulphur cluster deficiency myopathy. Brain. 2009;132:2170–2179
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  11. Aartsma-Rus A, van Ommen GJ. Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA. 2007;13:1609–1624
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  13. Rincón A, Aguado C, Desviat LR, et al. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet. 2007;81
  14. Heemskerk HA, de Winter CL, de Kimpe SJ, et al. In vivo comparison of 2′-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J Gene Med. 2009;11:257–266
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PII: S0960-8966(09)00651-8

doi: 10.1016/j.nmd.2009.09.011

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 833-836 , December 2009

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