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Research Article

Spinal Muscular Atrophy Due to Double Gene Conversion Event

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Pages 107-111 | Received 02 Jul 2010, Published online: 03 Nov 2010

REFERENCES

  • Arkblad, E. L., Darin, N., Berg, K., Kimber, E., Brandberg, G., Lindberg, C., (2006). Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscular Disorders, 16, 830–838.
  • Brzustowicz, L. M., Lehner, T., Castilla, L. H., Penchaszadeh, G. K., Wilhelmsen, K. C., Daniels, R., (1990). Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3. Nature, 344, 540–541.
  • Burghes, A. H. (1997). When is a deletion not a deletion? When it is converted. American Journal of Human Genetics, 61, 9–15.
  • Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., et al.. (1996). Structure and organization of the human survival motor neuron (SMN) gene. Genomics, 32, 479–482.
  • Bürglen, L., Seroz, T., Miniou, P., Leferbre, S., Burlet, P., Munnich, A., (1997). The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. American Journal of Human Genetics, 60, 72–79.
  • Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Bürglen, L., Cruaud, C., (1995). A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nature Genetics, 11, 335–337.
  • Cuscó, I., Barceló, M. J., Baignet, M., & Tizzano, E. F. (2002). Implementation of SMA carrier testing in genetic laboratories: Comparison of two methods for quantifying the SMN1 gene. Human Mutation, 20, 452–459.
  • DiDonato, C. J., Ingraham, S. E., Mendell, J. R., Prior, T. W., Lenard, S., Moxley, R. T., III., (1997). Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity? Annals of Neurology, 41, 230–237.
  • Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., (1995). Identification and characterization of a spinal muscular atrophy-determining gene. Cell, 80, 155–165.
  • Martin, Y., Valero, A., del Castillo, E., Pascual, S., & Hernandez-Chico, C. (2002). Genetic study of SMA patients without homozygous SMN1 deletions: Identification of compound heterozygous and characterization of novel intragenic SMN1 mutations. Human Genetics, 110, 257–263.
  • Munsat, T., & Davies, K. (1992). International SMA consortium meeting. Neuromuscular Disorders, 2, 423–428.
  • Ogino, S., Gao, S., Leonard, G. B. D., Paessler, M., & Wilson, B. R. (2003). Inverse correlation between SMN1 and SMN2 copy numbers: Evidence for gene conversion from SMN2 to SMN1. European Journal of Human Genetics, 11, 275–277.
  • Rastinejad, F., Conboy, M. J., Rando, T. A., & Blau, H. M. (1993). Tumor suppression by RNA from the 3′ untranslated region of a α-tropomyosin. Cell, 75, 513–520.
  • Rodrigues, N. R., Owen, N., Tablot, K., Ignatius, J., Dubowit, V., & Davies, K. E. (1995). Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Human Molecular Genetics, 4, 631–634.
  • Tablot, K., Rodrigues, N. R., Ignatius, J., Muntoni, F., & Davies, K. E. (1997). Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype. Neuromuscular Disorders, 7, 198–201.
  • Van Der Steege, G., Grootschoiten, P. M., Van der Vlies, P., Draaijers, T. G., Osinga, J., Cobben, J. M., (1995). PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet, 345, 985–986.
  • Velasco, E., Valero, C., Valero, A., Moreno, F., & Chico, H. C. (1996). Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of CBCD541 and SMA phenotype. Human Molecular Genetics, 2, 257–263.
  • Wirth, B., Brichta, L., Schrank, B., Lochmüller, H., Blick, S., Baasner, A., (2006). Mlidly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Human Genetics, 119, 422–428.
  • Zerres, K., & Rundnik-Schoneborn, S. (1995). Natural history in proximal spinal muscular atrophy (SMA). Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Archives of Neurology, 52, 18–23.

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