期刊
JOURNAL OF HUMAN GENETICS
卷 55, 期 11, 页码 771-773出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.106
关键词
Charcot-Marie-Tooth disease type 1; Dejerine-Sottas disease; hereditary neuropathy with liability to pressure palsies; multiplex ligation-dependent probe amplification; peripheral myelin protein 22
资金
- Ministry of Health, Labour and Welfare of Japan
- Ministry of Education, Science, Culture and Sports of Japan
- Grants-in-Aid for Scientific Research [20591243, 22790964, 21591311] Funding Source: KAKEN
We present a 3 1/3-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3'-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22. Journal of Human Genetics (2010) 55, 771-773; doi:10.1038/jhg.2010.106; published online 26 August 2010
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