Article
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
Orphanet journal of rare diseases - 21 Oct 2016
Akawi Nadia A, Ben-Salem Salma, Hertecant Jozef, John Anne, Pramathan Thachillath, Kizhakkedath Praseetha, Ali Bassam R, Al-Gazali Lihadh
Abstract excerpt
BACKGROUND: The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. RESULTS: We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locus on chromosome 17....
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