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[New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2000

Anisimova I V, Dadali E L, Konovalov F A, Akimova I A

Abstract excerpt

AIM: To determine clinical and genetic characteristics of patients with non-syndromic mental retardation (NMR), type 20 with autosomal dominant type of inheritance (OMIM: 613443). MATERIAL AND METHODS: Fourteen patients were studied including four patients with mutations in the MEF2C gene revealed by exome sequencing. Three of the four mutations in the gene were found for the first time. RESULTS: Based on a...

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PMID: 29863696
DOI: 10.17116/jnevro20181184170-75

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