TY  - GEN
AU  - Al-Hassnan,Zuhair N
AU  - Al-Dosary,Mazhor
AU  - Alfadhel,Majid
AU  - Faqeih,Eissa A
AU  - Alsagob,Maysoon
AU  - Kenana,Rosan
AU  - Almass,Rawan
AU  - Al-Harazi,Olfat S
AU  - Al-Hindi,Hindi
AU  - Malibari,Omhani I
AU  - Almutari,Faten B
AU  - Tulbah,Sahar
AU  - Alhadeq,Faten
AU  - Al-Sheddi,Tarfa
AU  - Alamro,Rana
AU  - AlAsmari,Ali
AU  - Almuntashri,Makki
AU  - Alshaalan,Hesham
AU  - Al-Mohanna,Futwan A
AU  - Colak,Dilek
AU  - Kaya,Namik
TI  - ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
SN  - 1468-6244
PY  - 2016///0301
KW  - Adult
KW  - Alexander Disease
KW  - genetics
KW  - Child, Preschool
KW  - DNA, Mitochondrial
KW  - Exome
KW  - Female
KW  - Humans
KW  - Infant
KW  - Iron-Sulfur Proteins
KW  - Male
KW  - Middle Aged
KW  - Mitochondrial Diseases
KW  - Mutation, Missense
KW  - Neurodegenerative Diseases
KW  - Pedigree
KW  - Sequence Analysis, DNA
KW  - White Matter
KW  - abnormalities
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2014-102592
ER  -