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KMID : 0861220090110020059
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Journal of the Korean Society Clinical Neurophysiology
2009 Volume.11 No. 2 p.59 ~ p.63
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Identification of a Dysferlin Gene Mutation in One Patient Showing Clinical Manifestation of Miyoshi Myopathy
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Ji Myung-Goo
Choi Young-Chul
Kim Nam-Hee
Kim Dae-Seong
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Abstract
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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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KEYWORD
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Miyoshi myopathy, Dysferlin, Dysfelinopathy
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