MYH14 AS CAUSATIVE GENE RESPONSIBLE FOR COMPLEX PHENOTYPE OF PERIPHERAL NEUROPATHY, MYOPATHY, HEARING LOSS AND HOARSENESS, AND DIAGNOSTIC METHOD AND KIT FOR THE COMPLEX PHENOTYPE USING THE SAME
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United States of America Patent
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Issued Date -
Aug 30, 2012
app pub date -
Jan 26, 2012
filing date -
Feb 24, 2011
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Abandoned
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Abstract
The present invention newly identified a missense mutation in the MYH14 gene as a cause responsible for a complex phenotype of peripheral neuropathy, myopathy, hearing loss, and hoarseness. Further, the present invention provides a method for diagnosing inherited neuromuscular disorders showing a complex phenotype of peripheral neuropathy, myopathy, hearing loss, and hoarseness via detection of the mutated MYH14 gene or the protein encoded thereby, and a diagnostic kit therefor. According to the present invention, simple examination of the gene allows early diagnosis of inherited neuromuscular disorders showing the complex phenotype of peripheral neuropathy, myopathy, hearing loss, and hoarseness, which shows high inheritance and is caused by a single gene defect, and accurate diagnosis of the disease makes it possible to tailor therapy.
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