Locus and allelic heterogeneity in five families with hereditary spastic paraplegia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-01

AUTHORS

Malavika Hebbar, Anju Shukla, Sheela Nampoothiri, Stephanie Bielas, Katta M Girisha

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. More... »

PAGES

17-21

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0523-y

DOI

http://dx.doi.org/10.1038/s10038-018-0523-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1107685270

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30337681


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