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Article

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Journal of medical genetics - 1 Jul 2012

Zivony-Elboum Yifat, Westbroek Wendy, Kfir Nehama, Savitzki David, Shoval Yishay, Bloom Assnat, Rod Raya, Khayat Morad, Gross Bella, Samri Walid, Cohen Hector, Sonkin Vadim, Freidman Tatiana, Geiger Dan, Fattal-Valevski Aviva, Anikster Yair, Waters Aoife M, Kleta Robert, Falik-Zaccai Tzipora C

Abstract excerpt

BACKGROUND: 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. METHODS: The authors performed neurological and developmental examinations on the affected individuals. The authors conducted whole genome linkage and haplotype analyses,...

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Share to Chromosomes, Human, Pair 8
Share to Endosomal Sorting Complexes Required for Transport

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22717650
DOI: 10.1136/jmedgenet-2012-100742

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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