Annals of Clinical Neurophysiology

  • 제20권2호
  • /
  • Pages.89-92
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  • 2018
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  • 2508-691X(pISSN)
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  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
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Novel recessive mutations of COL6A1 identified in the early severe phenotype of ullrich congenital muscular dystrophy

  • Park, Young-Eun (Department of Neurology, Pusan National University School of Medicine) ;
  • Shin, Jin-Hong (Department of Neurology, Pusan National University School of Medicine) ;
  • Kim, Hyang-Sook (Research Institute for Convergence of Biomedical Research and Technology, Pusan National University Yangsan Hospital) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University School of Medicine)
  • 투고 : 2018.01.30
  • 심사 : 2018.06.17
  • 발행 : 2018.07.31
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초록

Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in one of three genes encoding collagen VI. Although UCMD usually shows an early onset, progressive weakness, contractures and hyperlaxity of the joints, and respiratory failure, it is well known to exhibit a wide spectrum of clinical severities. The severities of the phenotypic subtypes are mainly divided according to the ambulation status. We report a patient with the early-severe phenotype of UCMD who was diagnosed by the detection of novel recessive mutations in COL6A1.

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참고문헌

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