| 摘要 |
PROBLEM TO BE SOLVED: To provide a method for determining whether a subject is at risk of Charcot Marie Tooth type 4J neuropathy.SOLUTION: The present invention provides a method of detecting a variant FIG4 gene of a subject that comprises detecting the presence or absence of a variant FIG4 gene in a biological sample from the subject. The variant FIG4 gene includes a mutation selected from the group consisting of a mutation with a truncation in exon 4 of FIG4 polypeptide, a missense mutation in exon 2, a nonsense mutation in exon 6, a mutation with a truncation mutation in FIG4 polypeptide, and their combinations.SELECTED DRAWING: None |
