Ontology highlight
ABSTRACT:
SUBMITTER: Shukla A
PROVIDER: S-EPMC5484744 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Shukla Anju A Hebbar Malavika M Srivastava Anshika A Kadavigere Rajagopal R Upadhyai Priyanka P Kanthi Anil A Brandau Oliver O Bielas Stephanie S Girisha Katta M KM
Journal of human genetics 20170330 7
The iron-sulfur (Fe-S) cluster (ISC) biogenesis pathway is indispensable for many fundamental biological processes and pathogenic variations in genes encoding several components of the Fe-S biogenesis machinery, such as NFU1, BOLA3, IBA57 and ISCA2 are already implicated in causing four types of multiple mitochondrial dysfunctions syndromes (MMDS). We report on two unrelated families, with two affected children each with early onset neurological deterioration, seizures, extensive white matter ab ...[more]