Reverse phenotyping to further define a new mitochondrial depletion syndrome caused by an ISCA2 mutation: Commentary on: Alfadhel et al. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
Eur J Paediatr Neurol
.
2018 Jan;22(1):4-5.
doi: 10.1016/j.ejpn.2017.12.011.
Epub 2017 Dec 21.
Author
Mohamed O E Babiker
1
Affiliation
1
Bristol Royal Hospital for Children, Bristol, UK. Electronic address: mohamedbabiker@doctors.org.uk.
PMID:
29289521
DOI:
10.1016/j.ejpn.2017.12.011
No abstract available
Publication types
Editorial
Comment
MeSH terms
DNA, Mitochondrial
Humans
Mutation*
Phenotype*
Syndrome
Substances
DNA, Mitochondrial