期刊
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
卷 17, 期 2, 页码 141-146出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1529-8027.2012.00405.x
关键词
Charcot-Marie-Tooth disease; disease gene; FRABIN; homozygous mutation; missense; neuropathy; peripheral nerve
资金
- French Association against Myopathy (AFM)
- Agence Universitaire de la Francophonie (AUF)
By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients from consanguineous descent: p.Arg442His in an Algerian patient and p.Met566Ile in a Lebanese girl. The patients present early onset, slowly progressive CMT, with drastic reduction of nerve conduction velocities. These mutations are the second and third missense mutations characterized in FGD4. They are likely to lead to conformational changes in the PH1 and FYVE domains.
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