A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders.

Source: Orphanet Journal of Rare Diseases - October 21, 2016 Category: Internal Medicine Authors: Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali and Lihadh Al-Gazali Source Type: research