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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Detalles Bibliográficos
Autores principales: Nadaf, Swaleha Nurulla, Chakor, Rahul T., Kothari, Kaumil V., Mannan, Ashraf U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7657298/
https://www.ncbi.nlm.nih.gov/pubmed/33223674
http://dx.doi.org/10.4103/aian.AIAN_448_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7657298/
https://www.ncbi.nlm.nih.gov/pubmed/33223674
http://dx.doi.org/10.4103/aian.AIAN_448_18

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