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Results 1 - 10 of 16 for Hereditary peripheral neuropathy
  1. MFN2 gene 
    ... gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults. ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  2. PRPS1 gene 
    ... pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am ...
    https://medlineplus.gov/genetics/gene/prps1 - Genetics
  3. VRK1 gene 
    ... that has been described as a form of hereditary motor and sensory neuropathy (HMSN). HMSNs are a group of disorders that affect peripheral nerves, which connect the brain and spinal cord ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics
  4. SPTLC1 gene 
    ... the SPTLC1 gene have been found to cause hereditary sensory neuropathy type IA. This condition is characterized by nerve abnormalities in the legs and feet (peripheral neuropathy); a reduced ability to feel pain, which ...
    https://medlineplus.gov/genetics/gene/sptlc1 - Genetics
  5. ATL1 gene 
    ... have been found to cause a condition called hereditary sensory neuropathy type ID. This condition is characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  6. HSPB1 gene 
    ... Timmerman V. Small heat shock proteins in inherited peripheral neuropathies. ... hereditary motor neuropathies: insights directing future genetic studies. Curr ...
    https://medlineplus.gov/genetics/gene/hspb1 - Genetics
  7. SLC12A6 gene 
    ... Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat ... Liang B, Sun D, Bonnemann CG, Delpire E. Peripheral motor neuropathy is associated with defective kinase regulation of the ...
    https://medlineplus.gov/genetics/gene/slc12a6 - Genetics
  8. TRPV4 gene 
    ... to all TRPV4-related disorders as TRPV4-associated peripheral neuropathy and bony dysplasias (TRPV4-PNAB) or TRPV4-opathies. ... BRACHYOLMIA TYPE 3; BCYM3 PARASTREMMATIC DWARFISM NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 8; HMND8 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  9. BSCL2 gene 
    ... G, Hartung HP, Wagner K, Windpassinger C; Austrian Peripheral Neuropathy Study Group. Phenotypes of the N88S Berardinelli-Seip ... Citation on PubMed Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 Aug ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  10. MPZ gene 
    ... 1002/humu.10134. Citation on PubMed Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
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