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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...
Autores principales: | Chen, Shuai, Zou, Jin‐Long, He, Shuang, Li, Wei, Zhang, Jie‐Wen, Li, Shu‐Jian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
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 |
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