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Results 1 - 9 of 9 for hypomyelination leukodystrophy 11
  1. Pol III-related leukodystrophy 
    ... subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. ... R. More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol. ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  2. POLR3B gene 
    ... subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. ... R. More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol. ...
    https://medlineplus.gov/genetics/gene/polr3b - Genetics
  3. POLR3A gene 
    ... hypogonadotropic hypogonadism (4H syndrome); tremor-ataxia with central hypomyelination (TACH); leukodystrophy with oligodontia (LO); or hypomyelination with cerebellar atrophy ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. TUBB4A-related leukodystrophy 
    ... transmission of nerve impulses. In particular, TUBB4A-related leukodystrophy involves hypomyelination, which means that the nervous system has a ... TUBB4A-related hypomyelinating leukodystrophy Genetic Testing ... Hypomyelination with atrophy of basal ganglia and cerebellum National ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  5. TUBB4A gene 
    ... ability of the nervous system to produce myelin (hypomyelination). TUBB4A-related leukodystrophy has a wide range of severity, with a ... dysphagia). Individuals with dystonia 4 do not have hypomyelination or other ... leukodystrophy (described above).The most common TUBB4A gene mutation ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  6. Leukoencephalopathy with vanishing white matter 
    ... compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy. Nat Med. 2005 Mar;11(3):277-83. doi: 10.1038/nm1195. Epub ... R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white ... leukodystrophy caused by abnormal control of protein synthesis. Mol ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  7. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... leg spasticity National Organization for Rare Disorders (NORD) ... of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL. Neurobiol Dis. 2017 Jan;97(Pt A): ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  8. Canavan disease 
    ... Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. Biochimie. 2013 Apr;95(4):946-56. doi: 10.1016/j.biochi.2012.10.023. Epub 2012 Nov 11. Citation on PubMed Feigenbaum A, Moore R, Clarke ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  9. Pelizaeus-Merzbacher disease 
    ... of a group of genetic disorders called leukodystrophies. Leukodystrophies are ... involves hypomyelination, which means that the nervous system has a ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics