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Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy

김태승|최영철|오승헌
연세대학교의과대학 (Yonsei University College of Medicine)|2004.10|Yonsei Medical Journal|제45권 제5호|pp. 927-930

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참고문헌

주제분류의학일반

초록

Abstract

Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to an amino acid substitution from the glutamic acid to glutamine at the 389 of the peptide sequence in this patient. This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea.

참고문헌 (14)

  1. "Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy", 20, pp.31~36 (1998)
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  6. "Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype", 60, pp.1799~1804 (2003)
  7. "A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy", 11, pp.139~145 (2001)
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  9. "Caenorhabditis elegans fertilization- defective mutants with abnormal sperm", 96, pp.413~413 (1980)
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  12. "The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle", 10, pp.1761~1766 (2001)
  13. "Variable reduction of caveolin-3 in patients with LGMD2B", MM, 2003, pp.250, 1431~1438
  14. "Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene", 61, pp.562~564 (2003)

관련 논문AI추천

미요시근육병 환자에서 밝혀진 Dysferlin 유전자 돌연변이김남희, 김대성, 지명구, 최영철대한임상신경생리학회 · Annals of Clinical Neurophysiology2009 · 제11권 제2호미요시근병증에서 Dysferlin의 면역세포화학검사와 Western Blot의 분석김승민, 김태승, 오승헌, 최영철, 선우일남대한신경과학회 · 대한신경과학회지2005 · 제23권 제4호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호근조직 및 배양 근세포에서의 Dysferlin 발현과 그 의의이은영, 최영철대한신경과학회 · 대한신경과학회지2007 · 제25권 제4호Merosin 결핍 선천성근이영양증 1예강성웅, 김태승, 채경민, 최영철대한신경과학회 · 대한신경과학회지2004 · 제22권 제6호First Identification of CGG-Repeat Expansions in LRP12 in Korean Families With Oculopharyngodistal Myopathy Type 1Akihiko Mitsutake, Hiroyuki Ishiura, Hyung Jun Park, Kilim Lee대한신경과학회 · Journal of Clinical Neurology2025 · 제21권 제6호

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