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Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement
The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had abno...
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| Main Authors: | , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2005
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2886026/ https://ncbi.nlm.nih.gov/pubmed/16116125 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/01.wnl.0000178224.81169.c2 |
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