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Article

Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability.

European journal of medical genetics - 1 Feb 2018

Radha Rama Devi A, Lingappa Lokesh

Abstract excerpt

In this study we present the first two cases from India of a rare inborn error of metabolism manifesting as dystonia and 3-methylglutaconic aciduria and a Leigh like lesions in the brain MRI associated with SERAC1 gene mutation, a phenotype characteristic of MEGDEL syndrome. A four base pair duplication in exon 15 i.e.NM_032861.3 (SERAC1) c. 1643_1646 dup ATCT (p.(Leu550SerfsX19)) and another with a homozygous...

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Source

Identifiers

PMID: 28778788
DOI: 10.1016/j.ejmg.2017.07.013

Genes

SERAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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