Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Published:2013-06-10 Issue:4 Volume:85 Page:393-395
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Donkervoort S.¹,Dastgir J.¹,Hu Y.¹,Zein W.M.²,Marks H.³,Blackstone C.⁴,Bönnemann C.G.¹

Affiliation:

1. Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section; National Institutes of Health, National Institute of Neurological Disorders and Stroke; Bethesda MD USA

2. Ophthalmic Genetics and Visual Function Branch; National Institutes of Health, National Eye Institute; Bethesda MD USA

3. The Center for Neurological and Neurodevelopmental Health; Gibbsboro NJ USA

4. Neurogenetics Branch, Cell Biology Section; National Institutes of Health, National Institute of Neurological Disorders and Stroke; Bethesda MD USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference7 articles.

1. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35);Dick;Hum Mutat,2010

2. Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration;Pierson;Eur J Hum Genet,2012

3. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia;Edvardson;Am J Hum Genet,2008

4. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA);Kruer;Ann Neurol,2010

5. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias;Schneider;Ann Neurol,2010

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