KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

Abstract Background Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosoma...

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Bibliographic Details
Main Authors: G. E. Rudenskaya, V. A. Kadnikova, O. P. Ryzhkova, L. A. Bessonova, E. L. Dadali, D. S. Guseva, T. V. Markova, D. N. Khmelkova, A. V. Polyakov
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Neurology
Subjects:
Autosomal dominant spastic paraplegia type 30 (SPG30)
KIF1A gene
Pathogenic variants
Gene panel
Massive parallel sequencing
Pure phenotype
Online Access:http://link.springer.com/article/10.1186/s12883-020-01872-4

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