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Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor neuron involvement, and early onset strok...
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| Autori principali: | , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3125445/ https://ncbi.nlm.nih.gov/pubmed/21258814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-011-5910-7 |
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