Identification of a Dysferlin Gene Mutation in One Patient Showing
Clinical Manifestation of Miyoshi Myopathy
Myung-Goo Ji, M.D.1
, Nam-Hee Kim, M.D.1
, Dae-Seong Kim, M.D.2
, Young-Chul Choi, M.D.3
Departments of Neurology, 1
Dongguk University College of Medicine, Gyeonggi; 2
Pusan National University School of Medicine, Busan; 3
Yonsei University College of Medicine, Seoul, Korea
Received 9 March 2009; received in revised form 11 June 2009; accepted 29 June 2009.
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.
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