Multiple Mitochondrial Dysfunctions Syndrome 4 Due to Gene Defects: A Review
Multiple mitochondrial dysfunctions syndrome 4, caused by ISCA2 gene defects (OMIM #616370), was first described by Al-Hassnan et al in 2015. To date, 20 cases have been reported: 13 females and 7 males from 18 different families. All cases are from Saudi Arabia except those from one Italian family....
Main Author: | Majid Alfadhel MD, MHSc, FCCMG |
---|---|
Format: | Article |
Language: | English |
Published: |
SAGE Publishing
2019-05-01
|
Series: | Child Neurology Open |
Online Access: | https://doi.org/10.1177/2329048X19847377 |
Similar Items
-
Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review
by: Rayan Alfallaj MD, et al.
Published: (2019-02-01) -
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation
by: Elise Lebigot, et al.
Published: (2021-08-01) -
Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review
by: Majid Alfadhel
Published: (2017-10-01) -
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease
by: Majid Alfadhel MD, FCCMG, et al.
Published: (2017-09-01) -
Mitochondrial Dysfunction in Multiple Sclerosis: A Systematic Review
by: Alia Saberi, et al.
Published: (2019-02-01)