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....

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Bibliographic Details
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