Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)
2007 | Zeitschriftenartikel; Forschungsarbeit. Eine Publikation mit Affiliation zur Georg-August-Universität Göttingen.
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Zitiervorschlag
Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A)
Neusch, C.; Senderek, J.; Eggermann, T.; Elolff, E.; Bähr, M. & Schneider-Gold, C. (2007)
European Journal of Neurology, 14(5) pp. 575-577. DOI: https://doi.org/10.1111/j.1468-1331.2006.01688.x
Dokumente & Medien
Details
- Autor(en)
- Neusch, C.; Senderek, J.; Eggermann, T.; Elolff, E.; Bähr, M. ; Schneider-Gold, C.
- Zusammenfassung
- Charcot-Marie-Tooth disease (CMT) has been classified into two types: demyelinating forms (CMT1) and axonal forms (CMT2). Mutations in the CMT2A locus have been linked to the KIF1B and the mitofusin 2 (MFN2) genes. Here, we report a German patient with CMT2 with an underlying spontaneous mutation (c.281G -> A) in the MFN2 gene. Clinically, the patient presented with early-onset CMT that was not associated with additional central nervous system pathology. The disease course was rapidly progressive in the first years and slowed afterwards. We also suggest that single patients with early-onset axonal polyneuropathies should be screened for MFN2 mutations.
- Erscheinungsdatum
- 2007
- Zeitschrift
- European Journal of Neurology
- ISSN
- 1351-5101
- Sprache
- Englisch
