Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

Hebbar, Malavika and Shukla, Anju and Katta, Girisha M (2018) Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. Journal of Human Genetics. pp. 1-5. ISSN 1434-5161

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Abstract

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome sequencing of index cases. The cohort consists of three families with spastic paraplegia type 47 (AP4B1) with a common mutation in two families, a family with spastic paraplegia type 50 (AP4M1), and two male siblings with X-linked spastic paraplegia 2 (PLP1). This work illustrates locus and allelic heterogeneity in five families with hereditary spastic paraplegia.

Item Type: Article
Subjects: Medicine > KMC Manipal > Medicine
Depositing User: KMC Library
Date Deposited: 12 Jan 2019 09:15
Last Modified: 12 Jan 2019 09:15
URI: http://eprints.manipal.edu/id/eprint/152921

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