Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
권호 표지

Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy

미요시근육병 환자에서 밝혀진 Dysferlin 유전자 돌연변이

  • Ji, Myung-Goo (Department of Neurology, Dongguk University College of Medicine) ;
  • Kim, Nam-Hee (Department of Neurology, Dongguk University College of Medicine) ;
  • Kim, Dae-Seong (Department of Neurology, Pusan National University School of Medicine) ;
  • Choi, Young-Chul (Department of Neurology, Yonsei University College of Medicine)
  • 지명구 (동국대학교 의과대학 신경과학교실) ;
  • 김남희 (동국대학교 의과대학 신경과학교실) ;
  • 김대성 (부산대학교 의과대학 신경과학교실) ;
  • 최영철 (연세대학교 의과대학 신경과학교실)
  • Received : 2009.03.09
  • Accepted : 2009.06.29
  • Published : 2009.12.30
Download PDF
⟨ Previous Next ⟩

Abstract

Miyoshi myopathy (MM) is caused by the mutations of dysferlin gene (DYSF), which impairs the function of dysferlin protein causing muscle membrane dysfunction. We report a patient showing the MM phenotype who has a sister with LGMD 2B phenotype, along with the results of the immunohistochemical and molecular analyses of the DYSF gene. Immunohistochemical analysis noted negative immunoreactivity against dysferlin. Direct DNA sequencing of whole exons of DYSF gene revealed heterozygous nonsense mutations (c.610C>T + c.2494C>T). To our knowledge, this is the first reported MM case with this very combination of heterozygous mutations.

Keywords

References

  1. Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain 1986;109:31-54. https://doi.org/10.1093/brain/109.1.31
  2. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36. https://doi.org/10.1038/1682
  3. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, et al. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001;49:130-134. https://doi.org/10.1002/1531-8249(200101)49:1<130::AID-ANA22>3.0.CO;2-0
  4. Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, et al. Dysferlin mutations in Japanese Miyoshi myopathy: Relationship to phenotype. Neurology 2003;60:1799-1804. https://doi.org/10.1212/01.WNL.0000068333.43005.12
  5. Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, et al. Analysis of the dysf mutational spectrum in a large cohort of patients. Hum Mutat 2009;30:E345-375. https://doi.org/10.1002/humu.20910
  6. Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168-172. https://doi.org/10.1038/nature01573
  7. Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW. Clinical and genetic analysis of Korean patients with Miyoshi myopathy: Identification of three novel mutations in the dysf gene. J Korean Med Sci 2006;21:724-727. https://doi.org/10.3346/jkms.2006.21.4.724
  8. Oh SH, Kim TS, Choi YC. Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy. Yonsei Med J 2004;45:927-930. https://doi.org/10.3349/ymj.2004.45.5.927
  9. Oh SH, Kim SM, Sunwoo IN, Kim TS, Choi YC. Immunocytochemical and western blot analysis in Miyoshi myopathy. J Korean Neurol Assoc 2005;23:490-495.
  10. Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RH, Jr, Illa I. Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients. Neurology 2001;57:2136-2138. https://doi.org/10.1212/WNL.57.11.2136