More autosomal dominant SPG18 cases than recessive? The first AD‐SPG18 pedigree in Chinese and literature review

OBJECTIVE: Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated as spastic paraplegia 18 (SPG18). To date, SPG18 families/cases are still rarely reported. All early reported cases shared the autosomal recessive (AR) inheritance pattern. Over the past 3 years, autosomal dom...

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Detalles Bibliográficos
Autores principales: Chen, Shuai, Zou, Jin‐Long, He, Shuang, Li, Wei, Zhang, Jie‐Wen, Li, Shu‐Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671789/
https://www.ncbi.nlm.nih.gov/pubmed/34734492
http://dx.doi.org/10.1002/brb3.2395

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8671789/
https://www.ncbi.nlm.nih.gov/pubmed/34734492
http://dx.doi.org/10.1002/brb3.2395

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