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Article

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2018

Alfadhel Majid, Nashabat Marwan, Alrifai Muhammad Talal, Alshaalan Hesham, Al Mutairi Fuad, Al-Shahrani Saif A, Plecko Barbara, Almass Rawan, Alsagob Maysoon, Almutairi Faten B, Al-Rumayyan Ahmed, Al-Twaijri Waleed, Al-Owain Mohammed, Taylor Robert W, Kaya Namik

Abstract excerpt

Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset...

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Identifiers

PMID: 29122497
DOI: 10.1016/j.ejpn.2017.10.003

Genes

ISCA2

Variants

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