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Results 1 - 10 of 54 for neuropathy
  1. GAN 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 characterized by abnormally large (giant) and deteriorating ...
    https://medlineplus.gov/genetics/gene/gan - Genetics
  2. MFN2 gene 
    ... variant is also called hereditary motor and sensory neuropathy VI.) Vision loss is caused by the breakdown ... mitochondrial assembly regulatory factor Tests of MFN2 PubMed NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  3. MPZ gene 
    ... peripheral protein myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) MYP0_HUMAN P0 Glycoprotein P0 Protein Tests ... and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia. 2006 Sep;54( ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  4. PNPLA6 gene 
    ... gene provides instructions for making a protein called neuropathy target esterase (NTE). The NTE protein is involved ... brisk) reflexes, reduced sensation in the extremities (peripheral neuropathy), intellectual disability or other cognitive problems, eye abnormalities, ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  5. TRPV4 gene 
    ... all TRPV4-related disorders as TRPV4-associated peripheral neuropathy and bony dysplasias (TRPV4-PNAB) or TRPV4-opathies. ... 945. Citation on PubMed McEntagart M. TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci. 2012 Jul;19( ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  6. SOX10 gene 
    ... cause a similar disorder known as peripheral demyelinating neuropathy, central demyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease ( ...
    https://medlineplus.gov/genetics/gene/sox10 - Genetics
  7. GJB1 gene 
    ... beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) Tests of GJB1 PubMed GAP JUNCTION ... KA, Sargiannidou I. Connexins, gap junctions and peripheral neuropathy. Neurosci Lett. 2015 Jun 2;596:27-32. ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  8. MT-ND1 gene 
    ... gene are known to cause Leber hereditary optic neuropathy. Each of these mutations changes a single DNA ... percent of all cases of Leber hereditary optic neuropathy. This mutation replaces the nucleotide guanine with the ...
    https://medlineplus.gov/genetics/gene/mt-nd1 - Genetics
  9. MT-ND4 gene 
    ... gene are known to cause Leber hereditary optic neuropathy. This condition is an inherited form of vision ... the most common cause of Leber hereditary optic neuropathy; it is responsible for about 70 percent of ...
    https://medlineplus.gov/genetics/gene/mt-nd4 - Genetics
  10. MT-ND6 gene 
    ... been identified in people with Leber hereditary optic neuropathy. This condition is an inherited form of vision ... percent of all cases of Leber hereditary optic neuropathy, and it is the most common cause of ...
    https://medlineplus.gov/genetics/gene/mt-nd6 - Genetics
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