期刊
NEUROLOGY
卷 66, 期 5, 页码 745-747出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000201269.46071.35
关键词
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资金
- Wellcome Trust Funding Source: Medline
Charcot - Marie - Tooth type 4F disease (CMT4F) is an autosomal recessive neuropathy caused by mutations in the PRX gene. To date, only seven mutations have been identified in the PRX gene. In this study, the authors report a novel S399fsX410 mutation in the PRX gene and its effects at the protein level, which was identified in an 8-year-old patient with early-onset CMT disease.
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