Article
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Human molecular genetics - 15 Apr 2017
Cooper Helen M, Yang Yang, Ylikallio Emil, Khairullin Rafil, Woldegebriel Rosa, Lin Kai-Lan, Euro Liliya, Palin Eino, Wolf Alexander, Trokovic Ras, Isohanni Pirjo, Kaakkola Seppo, Auranen Mari, Lönnqvist Tuula, Wanrooij Sjoerd, Tyynismaa Henna
Abstract excerpt
De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Using whole-exome sequencing, we identified a dominantly inherited heterozygous variant c.1064G > A (p.G355D) in ATAD3A in a mother presenting with hereditary spastic...
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