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A novel p.Val244Leu mutation in MFN2 leads to Charcot-Marie-Tooth disease type 2
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is one of the most common hereditary peripheral neuropathy. The major clinical features of CMT are progressive muscle weakness of distal extremities and sensory loss. MFN2 encodes a GTPase dynamin-like protein mitofusin 2 and plays an essential role in m...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784292/ https://www.ncbi.nlm.nih.gov/pubmed/26956144 http://dx.doi.org/10.1186/s13052-016-0237-8 |