Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: An important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults

Ouvrier, Robert and Grew, Simon (2010) Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: An important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. Developmental Medicine and Child Neurology, 52 4: 328-330. doi:10.1111/j.1469-8749.2010.03613.x


Author Ouvrier, Robert
Grew, Simon
Title Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: An important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults
Journal name Developmental Medicine and Child Neurology   Check publisher's open access policy
ISSN 0012-1622
1469-8749
0419-0238
Publication date 2010-04
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1111/j.1469-8749.2010.03613.x
Volume 52
Issue 4
Start page 328
End page 330
Total pages 3
Place of publication London, United Kingdom
Publisher Mac Keith Press
Collection year 2011
Language eng
Formatted abstract
Mitofusin 2, a large transmembrane GTPase located in the outer mitochondrial membrane, promotes membrane fusion and is involved in the maintenance of the morphology of axonal mitochondria. Mutations of the gene encoding mitofusin 2 (MFN2) have recently been identified as the cause of approximately one-third of dominantly inherited cases of the axonal degenerative forms of Charcot–Marie–Tooth disease (CMT type 2A) and of rarer variants. The latter include a severe, early-onset axonal neuropathy, which may occur in autosomal dominant or recessive forms, as well as some instances associated with pyramidal tract involvement (CMT type 5), with optic atrophy (CMT type 6), and, occasionally, with alterations of cerebral white matter. All individuals with a dominantly or recessively inherited or otherwise unexplained, chronic progressive axonal degenerative polyneuropathy should be tested for mutations of MFN2.
© The Authors. Journal compilation © Mac Keith Press 2010
Keyword Charcot-Marie-Tooth disease
Sensory neuropathy
Early childhood
MFN2 mutations
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Published under Reviews.

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Official 2011 Collection
School of Medicine Publications
 
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Created: Sun, 21 Mar 2010, 00:08:13 EST