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Results 1 - 10 of 11 for Hereditary motor sensory neuropathy
  1. TRPV4 gene 
    The TRPV4 gene provides instructions for making a protein that acts as a calcium channel. This channel, which transports positively charged atoms of calcium ( ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  2. SLC12A6 gene 
    ... Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. ... on PubMed Gauvreau C, Brisson JD, Dupre N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb ...
    https://medlineplus.gov/genetics/gene/slc12a6 - Genetics
  3. MFN2 gene 
    ... include impaired vision. (This 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 ATROPHY; HMSN6A MITOFUSIN 2; ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  4. VRK1 gene 
    ... that has been described as a form of hereditary motor and sensory neuropathy (HMSN). HMSNs are a group of disorders that ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  5. DHH gene 
    ... Futamura N, Suzumura A, Tate G, Umehara F. Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY ...
    https://medlineplus.gov/genetics/gene/dhh - Genetics
  6. MPZ gene 
    ... U. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia. 2006 Sep;54(4):243-57. doi: 10.1002/glia.20386. Citation on PubMed Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 Aug ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  7. GARS1 gene 
    ... mutations have been identified in individuals with distal hereditary motor neuropathy, type V. This disorder affects nerve cells in ... feet. The GARS1 gene mutations that cause distal hereditary motor neuropathy, type V change single amino acids used to ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  8. HINT1 gene 
    ... reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22(6): ...
    https://medlineplus.gov/genetics/gene/hint1 - Genetics
  9. OPA1 gene 
    ... the nerves used for muscle movement and sensation (motor and sensory neuropathy), and skeletal muscle weakness (myopathy). The most severe ...
    https://medlineplus.gov/genetics/gene/opa1 - Genetics
  10. TECPR2 gene 
    ... cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 2016 ...
    https://medlineplus.gov/genetics/gene/tecpr2 - Genetics
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