… Here we report the third mutation in the ISCA2 gene. … and the two previously mutation reports
in ISCA2 gene suggest to … in families who are at the risk of infantile leukoencephalopathies. …

… A homoallelic missense founder mutation of the iron-sulfur cluster assembly 2 (ISCA2) gene
… affected by an autosomal recessive infantile neurodegenerative mitochondrial disorder. We …

… Mitochondrial diseases can be caused by mutations of nuclear or mitochondrial DNA.
The … This review will discuss the history of the knowledge of the ISCA2 gene defect, its …

… Because the phenotype of IRMD is similar to a wide range of neurodegenerative conditions,
… Such testing may provide or suggest a diagnosis not previously considered (eg, mutation of …

… Mutations in many ISC genes are associated with severe mitochondrial diseases displaying
a … Based on the critical function of both ISCA1 and ISCA2 in the maturation of mitochondrial […

… , IBA57 and ISCA2 are already implicated in causing four types of multiple … neurodegeneration,
seizures, extensive white matter … , usually considered to suggest a mitochondrial disease. …

… ISCA2 are already implicated in causing four types of multiple … neurodegeneration, seizures,
extensive white matter … , usually considered to suggest a mitochondrial disease. In addition, …

… manifesting as: normal early development, acute infantile … report of a mitochondrial
neurodegenerative disorder due to … A mutation in a mitochondrial targeting peptide has been …

… and ISCA2 are already implicated in causing four types of multiple … MMDS resulting from
a biallelic mutation in ISCA1, a key … and phenotype of mitochondrial disorder, we looked for …

… (ISCA1-MMDS) is a severe neurodegenerative condition … for patients suffering from
mitochondrial diseases and their … ISCA1 forms a heterocomplex with ISCA2 and functions in the …