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Synaptic Nuclear Envelope Protein 1 (SYNE 1) Ataxia with Amyotrophic Lateral Sclerosis-like Presentation: A Novel Synaptic Nuclear Envelope Protein 1 (SYNE 1) Gene Deletion Mutation from India
A 24-year-old female presented with wasting and weakness of both hands and fasciculations over the chin since 12 years, followed by imbalance while walking and speech changes since 10 years. Her 12-year-old sister also had a similar clinical presentation. There were fasciculations over the chin, ton...
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| Veröffentlicht in: | Ann Indian Acad Neurol |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer - Medknow
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7657298/ https://ncbi.nlm.nih.gov/pubmed/33223674 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_448_18 |
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