.png){kind=icon}
.png){kind=icon}
Return
Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene
.png){kind=icon}
PRE
AI
S
C
J
M
E
S
N
C
P
S
C
M
A
DOI：10.1016/j.mito.2026.102136.png)
.png){kind=icon}
Original request for help.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
Sideroflexin 4 (SFXN4) is a transmembrane protein located in the inner membrane of the mitochondria. SFXN4 is also thought to be involved in the formation of iron-sulphur centres. Deleterious bi-allelic variants of the SFXN4 gene have been reported in only 3 patients, with a phenotype including intellectual disability and macrocytic anaemia. We describe here a patient carrying pathogenic variants of SFXN4, associated with a non-anaemic sideroblastic macrocytosis and a complex I deficiency.
Keywords:
Mitochondrial disease
SFXN4
Macrocytosis
Journal
IF:
4.5
Papers:
2.4K
Citations:
5.5K
Organization
Cited Papers