NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

The hereditary spastic paraplegias (HSPs) are genetically heterogeneous disorders characterized by progressive lower-extremity weakness and spasticity. The molecular pathogenesis is poorly understood. We report discovery of a dominant negative mutation in the NIPA1 gene in a kindred with autosomal d...

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Bibliographic Details
Main Authors: Rainier, Shirley, Chai, Jing-Hua, Tokarz, Debra, Nicholls, Robert D., Fink, John K.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2003
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180617/
https://ncbi.nlm.nih.gov/pubmed/14508710
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