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A clinical study of a large inbred kindred with pure familial spastic paraplegia

โœ Scribed by Hatem E. El-Shanti; Azhar S. Daoud; Anwar Batieha

Book ID
117545931
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
71 KB
Volume
21
Category
Article
ISSN
0387-7604

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## Abstract We describe a Brazilian family in which inheritance of a G106R mutation in the __SPG6__ gene (also know as __NIPA1__) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia