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Lookup NU author(s): Professor Patrick Chinnery,
Dr Vankateswara Ramesh
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The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the index case has an unusual phenotype.
Author(s): Chinnery PF, Keers SM, Holden MJ, Ramesh V, Dalton A
Publication type: Article
Publication status: Published
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
PubMed id: 15326248
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