Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 for Axonal loss
  1. GAN gene 
    ... gene have been identified in people with giant axonal neuropathy, an inherited disorder that causes gradually worsening loss of movement and sensation. Giant axonal neuropathy is ...
    https://medlineplus.gov/genetics/gene/gan - Genetics
  2. HINT1 gene 
    ... VM, Janecke AR, De Jonghe P, Jordanova A. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44( ...
    https://medlineplus.gov/genetics/gene/hint1 - Genetics
  3. ANOS1 gene 
    ... one kidney to develop (unilateral renal agenesis), hearing loss, and mirror movements of the hands (bimanual synkinesia). ...
    https://medlineplus.gov/genetics/gene/anos1 - Genetics
  4. MFN2 gene 
    ... RH, Schmidt RE, Pestronk A, Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie- ... Bird T, Timmerman V, Shy M, Vance JM. Axonal neuropathy with optic atrophy is caused by mutations ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  5. TRPV4 gene 
    ... ng.945. Citation on PubMed McEntagart M. TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci. 2012 Jul; ... B, McWeeney S, Valverde MA, Cohen DM. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  6. KCNQ3 gene 
    ... ClinVar Chung HJ, Jan YN, Jan LY. Polarized axonal surface expression of neuronal KCNQ channels is mediated ... BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 ...
    https://medlineplus.gov/genetics/gene/kcnq3 - Genetics
  7. KCNQ2 gene 
    ... PubMed Chung HJ, Jan YN, Jan LY. Polarized axonal surface expression of neuronal KCNQ channels is mediated ... BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 ...
    https://medlineplus.gov/genetics/gene/kcnq2 - Genetics
  8. VRK1 gene 
    ... in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec;70( ... VRK1 is an early response gene and its loss causes a block in cell cycle progression. PLoS ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  9. MPZ gene 
    ... modelling of novel MPZ mutations in demyelinating and axonal neuropathies. Eur J Hum Genet. 2009 Sep;17( ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics