Hereditary spastic paraplegia (HSP) is a heterogeneous condition characterised in its pure form by progressive lower limb spasticity. Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases. A cohort of 41 mostly pure HSP patients from Britain and Austr
β¦ LIBER β¦
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis
β Scribed by Michele Falco; Carmela Scuderi; Sebastiano Musumeci; Maurizio Sturnio; Marcella Neri; Stefania Bigoni; Luisa Caniatti; Marco Fichera
- Book ID
- 116792213
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 114 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0960-8966
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