Zivony-Elboum, Y and Westbroek, W and Kfir, N and Savitzki, D and Shoval, Y and Bloom, A and Rod, R and Khayat, M and Gross, B and Samri, W and Cohen, H and Sonkin, V and Freidman, T and Geiger, D and Fattal-Valevski, A and Anikster, Y and Waters, AM and Kleta, R and Falik-Zaccai, TC (2012) A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet , 49 (7) 462 - 472. 10.1136/jmedgenet-2012-100742.
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Abstract
Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.
| Type: | Article |
|---|---|
| Title: | A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. |
| Location: | England |
| DOI: | 10.1136/jmedgenet-2012-100742 |
| Language: | English |
| Keywords: | Animals, Brain, Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 8, Endosomal Sorting Complexes Required for Transport, Female, Founder Effect, Gene Knockdown Techniques, Genes, Recessive, Genetic Linkage, Haplotypes, Homozygote, Humans, Magnetic Resonance Imaging, Male, Mutation, Missense, Pedigree, Phenotype, Selection, Genetic, Spastic Paraplegia, Hereditary, Zebrafish |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of) > Internal Medicine |
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