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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A (2004)

Züchner, Stephan ; Mersiyanova, Irina V ; Muglia, Maria ; [et al.]

[s.l.] : Nature Publishing Group

Nature genetics 36 (2004), S. 449-451

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ISSN: 1546-1718

Source: Nature Archives 1869 - 2009

Topics: Biology , Medicine

Notes: [Auszug] We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-β (KIF1B) was associated with CMT2A in a single Japanese family, we ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/ng1341

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