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A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2

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참고문헌 (8)

  1. Tran VK, "SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy", Pediatr Int, 50, pp.346~351 (2008)
  2. Melki K, "De novo and inherited deletions of the 5q13 region in spinal muscular atrophies", Science, 264, pp.1474~1477 (1994)
  3. Durmus H, "Muscle magnetic resonance imaging in spinal muscular atrophy type 3 : selective and progressive involvement", Muscle Nerve, 55, pp.651~656 (2017)
  4. Feldkötter M, "Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR : fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy", Am J Hum Genet, 70, pp.358~368 (2002)
  5. Wirth B, "Quantitative analysis of survival motor neuron copies : identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling", Am J Hum Genet, 64, pp.1340~1356 (1999)
  6. Raymond K, "A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1 : a similar decline for phenotypes but not for gender", Neuromuscul Disord, 27, pp.673~682 (2017)
  7. Jedrzejowska M, "Phenotype modifiers of spinal muscular atrophy : the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease", Acta Biochim Pol, 56, pp.103~108 (2009)
  8. Cuscó I, "SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings", J Neurol, 253, pp.21~25 (2006)

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