A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

J Hum Genet. 2017 Sep;62(9):865-866. doi: 10.1038/jhg.2017.64. Epub 2017 Jun 15.

Authors

Josef Finsterer¹, Sinda Zarrouk-Mahjoub²

Affiliations

¹ Krankenanstalt Rudolfstiftung, Vienna, Austria.
² University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia.

PMID: 28615675
DOI: 10.1038/jhg.2017.64

No abstract available

Publication types

Comment

MeSH terms

Homozygote
Humans
Iron-Sulfur Proteins / genetics*
Mitochondrial Diseases*
Mitochondrial Proteins / genetics

Substances

ISCA1 protein, human
Iron-Sulfur Proteins
Mitochondrial Proteins

Supplementary concepts

Multiple Mitochondrial Dysfunctions Syndrome