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http://purl.uniprot.org/citations/16762064http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16762064http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16762064http://www.w3.org/2000/01/rdf-schema#comment"

Background

Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.

Methods

Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts in the SSCP analysis were amplified from genomic DNA and cycle sequenced.

Results

We analyzed a total of 73 unrelated patients with a clinical diagnosis of CMT 2. Overall, novel mutations were detected in 6 patients. c.380G>T (G127V), c.1128G>A (M376I), c.1040A>T (E347V), c.1403G>A (R468H), c.2113G>A (V705I), and c.2258_2259insT (L753fs).

Conclusion

We confirmed a significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.org/dc/terms/identifier"doi:10.1186/1471-2350-7-53"xsd:string
http://purl.uniprot.org/citations/16762064http://purl.org/dc/terms/identifier"doi:10.1186/1471-2350-7-53"xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Epplen J.T."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Epplen J.T."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Haas G."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Haas G."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Vorgerd M."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Vorgerd M."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Meins M."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Meins M."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Engelfried K."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Engelfried K."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Gilles J."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Gilles J."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Hagedorn M."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/author"Hagedorn M."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/name"BMC Med. Genet."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/name"BMC Med. Genet."xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/pages"53"xsd:string
http://purl.uniprot.org/citations/16762064http://purl.uniprot.org/core/pages"53"xsd:string
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