Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

Clin Genet. 2015 Jul;88(1):95-7. doi: 10.1111/cge.12516. Epub 2014 Dec 11.

Authors

M S Zaki¹, L Selim², L Mansour², I G Mahmoud², A G Fenstermaker³, S B Gabriel⁴, J G Gleeson³

Affiliations

¹ Clinical Genetics Department, National Research Centre, Cairo, Egypt.
² Pediatric Neurology Department, Cairo University, Cairo, Egypt.
³ Neurogenetics Laboratory, Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, CA, USA.
⁴ Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.

PMID: 25496456
DOI: 10.1111/cge.12516

No abstract available

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Arabs / genetics
Child
Child, Preschool
DNA Mutational Analysis
Female
Homozygote
Humans
Male
Mixed Function Oxygenases / genetics*
Mutation*
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / genetics*
Paraparesis, Spastic / diagnosis
Paraparesis, Spastic / genetics*
Pedigree
Phenotype

Substances

Mixed Function Oxygenases
fatty acid alpha-hydroxylase

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