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First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy

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참고문헌 (4)

  1. Stensland E, "Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I", Neuromuscul Disord, 21, pp.41~46 (2011)
  2. Matsumoto H, "Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan", Neuromuscul Disord, 15, pp.342~348 (2005)
  3. Liang WC, "Limb-girdle muscular dystrophy type 2I is not rare in Taiwan", Neuromuscul Disord, 23, pp.675~681 (2013)
  4. Nigro V, "Next generation sequencing (NGS) strategies for the genetic testing of myopathies", Acta Myol, 31, pp.196~200 (2012)

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