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Article

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Developmental medicine and child neurology - 1 Oct 2011

Garone Caterina, Pippucci Tommaso, Cordelli Duccio M, Zuntini Roberta, Castegnaro Giovanni, Marconi Caterina, Graziano Claudio, Marchiani Valentina, Verrotti Alberto, Seri Marco, Franzoni Emilio

Abstract excerpt

Homozygous mutations in the gene for fatty acid 2-hydroxylase (FA2H) have been associated in humans with three neurodegenerative disorders: complicated spastic paraplegia (SPG35), leukodystrophy with spastic paraparesis and dystonia, and neurodegeneration with brain iron accumulation. Here, we describe a novel homozygous c.270+3A>T mutation in an Italian consanguineous family. In two affected brothers (age at...

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PMID: 21592092
DOI: 10.1111/j.1469-8749.2011.03993.x

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FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.PMID 21592092Read ↗

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