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Title: Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Issue Date: Dec-2017
Citation: Ann. Neurol..2017 Dec;(82)6:1004-1015
Abstract: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.
PMID: 29205472
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. 12 de Octubre > Artículos

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