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

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

Abstract 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...

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Bibliographic Details
Main Authors: Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali
Format: Article
Language:English
Published: BMC 2016-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ELAC2
Mitochondrial disorder
5′ end unprocessed mt-RNAs
Splice site mutation
Intellectual disability
Respiratory chain complex I (RCCI) deficiency
Online Access:http://link.springer.com/article/10.1186/s13023-016-0526-8

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http://link.springer.com/article/10.1186/s13023-016-0526-8

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