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BMC Med Genet. 2006 Jun 8;7:53.

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Author information

1
Department of Human Genetics, Ruhr-University Bochum, Germany. Kathrin.Engelfried@ruhr-uni-bochum.de

Abstract

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.

PMID:
16762064
PMCID:
PMC1524942
DOI:
10.1186/1471-2350-7-53
[Indexed for MEDLINE]
Free PMC Article
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