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A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study

✍ Scribed by Michito Namekawa; Yoshihisa Takiyama; Kumi Sakoe; Haruo Shimazaki; Miho Amaike; Kenji Niijima; Imaharu Nakano; Masatoyo Nishizawa


Book ID
119465342
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
264 KB
Volume
185
Category
Article
ISSN
0022-510X

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Clinical and genetic study of a large SP
✍ Antonio Orlacchio; Toshitaka Kawarai; Fabrizio Gaudiello; Antonio Totaro; Orazio πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 173 KB

## Abstract A novel __SPG4__ 906delT frame‐shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, s