טוען...
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family
Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, “classical CMT2”, and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigene...
שמור ב:
| הוצא לאור ב: | Neuromuscul Disord |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6415944/ https://ncbi.nlm.nih.gov/pubmed/30642740 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2018.12.008 |
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