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Article

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

The Turkish journal of pediatrics - 1 Jan 2017

Bektaş Gonca, Yeşil Gözde, Yıldız Edibe Pembegül, Aydınlı Nur, Çalışkan Mine, Özmen Meral

Abstract excerpt

Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. Turk J Pediatr 2017; 59: 329-334. Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid 2-hydroxylase (FA2H) gene in different loci are responsible for phenotypic variability. We aimed to define the...

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PMID: 29376581
DOI: 10.24953/turkjped.2017.03.016

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