Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference5 articles.
1. Leigh syndrome: one disorder, more than 75 monogenic causes;Lake;Ann. Neurol.,2016
2. A guide to diagnosis and treatment of Leigh syndrome;Baertling;J. Neurol. Neurosurg. Psychiatry,2014
3. Widening the heterogeneity of Leigh syndrome: clinical, biochemical, and neuroradiologic features in a patient harboring a NDUFA10 mutation;Minoia;JIMD Reports,2017
4. NDUFA10 mutations cause complex i deficiency in a patient with Leigh disease;Hoefs;Eur. J. Hum. Genet.,2011
5. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9;Haack;J. Med. Genet.,2012
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