-
Myelin (/ˈmaɪ.əlɪn/ MY-ə-lin) is a lipid-rich
material that in most
vertebrates surrounds the
axons of
neurons to
insulate them and
increase the rate at...
- loss of
myelin is
different from that seen in
other diseases where hypomyelination occurs. In VWM, the
cells never produce the
normal amounts, whereas...
-
Hypomyelination-congenital
cataract syndrome is a rare
autosomal recessive hereditary disorder that
affects the brain's
white matter and is characterized...
-
decrease in the
amount of
insulating myelin surrounding the
nerves (
hypomyelination) and
belongs to a
group of
genetic diseases referred to as leukodystrophies...
-
neurometabolic disorder ****ociated with microcephaly, epilepsy, and
cerebral hypomyelination".
Molecular Genetics and Metabolism. 125 (1–2): 118–126. doi:10.1016/j...
- awareness, funds, and
support for
research and
families affected by
hypomyelination with
brainstem and
spinal cord
involvement and leg
spasticity (HBSL)...
-
childhood nystagmus,
increased muscle tone,
white matter anomalies or
hypomyelination in the brain, autistic-like
behaviour and the
underdevelopment or complete...
- may be hard to control.
Brain imaging shows dela****
myelination and
hypomyelination.
Mutations of the
MTHFS gene
disrupt folate metabolism,
which is very...
-
underdevelopment of ****ual
organs characteristic of CS are seen. However,
hypomyelination and the
facial features of
typical CS
patients are not present. If...
- hyccin,
encoded by the FAM126A gene.
Defects in
Hyccin are the
cause of
Hypomyelination and
Congenital Cataract (HCC), also
called leukodystrophy hypomyelinating...
