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SHR Neuro Cancer Cardio Lipid Metab Microb
Verhoeven, K; Claeys, KG; Züchner, S; Schröder, JM; Weis, J; Ceuterick, C; Jordanova, A; Nelis, E; De Vriendt, E; Van Hul, M; Seeman, P; Mazanec, R; Saifi, GM; Szigeti, K; Mancias, P; Butler, IJ; Kochanski, A; Ryniewicz, B; De Bleecker, J; Van den Bergh, P; Verellen, C; Van Coster, R; Goemans, N; Auer-Grumbach, M; Robberecht, W; Milic Rasic, V; Nevo, Y; Tournev, I; Guergueltcheva, V; Roelens, F; Vieregge, P; Vinci, P; Moreno, MT; Christen, HJ; Shy, ME; Lupski, JR; Vance, JM; De Jonghe, P; Timmerman, V.
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Brain. 2006; 129(Pt 8):2093-2102
Doi: 10.1093/brain/awl126
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- Auer-Grumbach Michaela
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- Abstract:
- Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients with distinct CMT phenotypes. In 29 probands, we identified 22 distinct MFN2 mutations, and 14 of these mutations have not been reported before. All mutations were located in the cytoplasmic domains of the MFN2 protein. Patients presented with a classical but rather severe CMT phenotype, since 28% of them were wheelchair-dependent. Some had additional features as optic atrophy. Most patients had an early onset and severe disease status, whereas a smaller group experienced a later onset and milder disease course. Electrophysiological data showed in the majority of patients normal to slightly reduced nerve conduction velocities with often severely reduced amplitudes of the compound motor and sensory nerve action potentials. Examination of sural nerve specimens showed loss of large myelinated fibres and degenerative mitochondrial changes. In patients with a documented family history of CMT2 the frequency of MFN2 mutations was 33% indicating that MFN2 mutations are a major cause in this population.
- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Adult -
- Age of Onset -
- Aged -
- Charcot-Marie-Tooth Disease - genetics
- Child - genetics
- Child, Preschool - genetics
- Electrophysiology - genetics
- Genotype - genetics
- Humans - genetics
- Membrane Proteins - genetics
- Microscopy, Electron - genetics
- Middle Aged - genetics
- Mitochondrial Proteins - genetics
- Mutation - genetics
- Phenotype - genetics
- Severity of Illness Index - genetics
- Sural Nerve - ultrastructure
- Find related publications in this database (Keywords)
- Charcot-Marie-Tooth type 2
- mitofusin 2
- genotype-phenotype correlation