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Results 1 - 9 of 9 for Spinal hypomyelination
  1. Hypomyelination with brainstem and spinal cord involvement and leg spasticity 
    ... synthetase deficiency HBSL Hypomyelination with brain stem and spinal cord involvement and leg spasticity Genetic Testing Registry: Hypomyelination with brain stem and spinal cord involvement and ...
    https://medlineplus.gov/...pinal-cord-involvement-and-leg-spasticity - Genetics
  2. DARS1 gene 
    ... have been found to cause a condition called hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL). This condition ... Knaap MS, Wolf NI. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. Am J Hum ...
    https://medlineplus.gov/genetics/gene/dars1 - Genetics
  3. Leukodystrophies (National Library of Medicine)  
    What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
    https://medlineplus.gov/leukodystrophies.html - Health Topics
  4. Pelizaeus-Merzbacher-like disease type 1 
    ... is an inherited condition involving the brain and spinal cord (central ... type 1 involves hypomyelination, which means that the nervous system has a ...
    https://medlineplus.gov/.../pelizaeus-merzbacher-like-disease-type-1 - Genetics
  5. Leukoencephalopathy with vanishing white matter 
    ... CACH syndrome Childhood ataxia with central nervous system hypomyelination Cree leukoencephalopathy Myelinosis centralis diffusa Vanishing white matter ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  6. Peripheral Nerve Disorders (National Library of Medicine)  
    ... peripheral nerves branch off from your brain and spinal cord and connect to all parts of your ...
    https://medlineplus.gov/peripheralnervedisorders.html - Health Topics
  7. Pelizaeus-Merzbacher disease 
    ... nerve impulses. In particular, Pelizaeus-Merzbacher disease involves hypomyelination, which means that the nervous system has a ... All of these PLP1 gene mutations lead to hypomyelination, nerve fiber damage, and impairment of nervous system ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  8. MPZ gene 
    ... disease is sometimes called Dejerine-Sottas syndrome, congenital hypomyelination, or Roussy-Levy syndrome. Researchers believe that the ... Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron. 1996 Sep;17(3):451-60. doi: ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  9. Phosphoglycerate dehydrogenase deficiency 
    ... tissue known as myelin that surrounds nerve cells (hypomyelination). Frequently, the tissue that connects the two halves ... the development and function of the brain and spinal cord (central nervous system). Serine is a part ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics