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A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, “classical CMT2”, and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.
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| Gepubliceerd in: | J Peripher Nerv Syst |
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| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2018
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5851840/ https://ncbi.nlm.nih.gov/pubmed/29341354 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jns.12248 |
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