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

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 develop...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Akawi, Nadia A., Ben-Salem, Salma, Hertecant, Jozef, John, Anne, Pramathan, Thachillath, Kizhakkedath, Praseetha, Ali, Bassam R., Al-Gazali, Lihadh
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5073853/
https://ncbi.nlm.nih.gov/pubmed/27769300
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0526-8
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