A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report

RATIONALE: We report a case of Spastic paraplegia 8 (SPG8) with a novel mutation of KIAA0196 gene. PATIENTS CONCERNS: A 12-year-old boy presented as ankle sprained, lower limb stiffness, abnormal gait since he was 5 years old. DIAGNOSES: The next generation sequence showed a novel c.1128delG (p.L376...

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Detalles Bibliográficos
Autores principales: Ma, Limin, Shi, Yingying, Chen, Zhongcan, Li, Shujian, Qin, Weiwei, Zhang, Jiewen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976306/
https://www.ncbi.nlm.nih.gov/pubmed/29768361
http://dx.doi.org/10.1097/MD.0000000000010760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976306/
https://www.ncbi.nlm.nih.gov/pubmed/29768361
http://dx.doi.org/10.1097/MD.0000000000010760

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