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Results 1 - 10 of 11 for hypomyelination leukodystrophy 10
  1. Leukoencephalopathy with vanishing white matter 
    ... R, Elroy-Stein O. Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Mol Genet Metab. 2006 May;88(1):7-15. doi: 10.1016/j.ymgme.2005.10.019. Epub 2006 ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  2. Pol III-related leukodystrophy 
    ... Wolf NI. POLR3A and POLR3B Mutations in Unclassified Hypomyelination. Neuropediatrics. 2015 ... with or without dental abnormalities and/or hypogonadotropic ...
    https://medlineplus.gov/.../condition/pol-iii-related-leukodystrophy - Genetics
  3. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... leg spasticity National Organization for Rare Disorders ... Homing in on the leukodystrophy HBSL. Neurobiol Dis. 2017 Jan;97(Pt A):24-35. doi: 10.1016/j.nbd.2016.10.008. Epub 2016 ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  4. 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
  5. 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
  6. 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
  7. TUBB4A gene 
    ... ability of the nervous system to produce myelin (hypomyelination). TUBB4A-related leukodystrophy has a wide range of severity, with a ... Vanderver A. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  8. Hypomyelination and congenital cataract 
    ... Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Citation on PubMed
    https://medlineplus.gov/.../hypomyelination-and-congenital-cataract - Genetics
  9. Canavan disease 
    ... McDonough JA, Pleasure D. Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. Ann Neurol. 2015 May;77(5):884-8. doi: 10.1002/ana.24392. Epub 2015 Mar 27. Citation ...
    https://medlineplus.gov/genetics/condition/canavan-disease - Genetics
  10. Pelizaeus-Merzbacher-like disease type 1 
    ... particular, Pelizaeus-Merzbacher-like disease type 1 involves hypomyelination, which means that the nervous system has a reduced ability to form myelin. The signs and symptoms of this condition are very similar to another leukodystrophy called Pelizaeus-Merzbacher disease, but the two disorders ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
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