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Results 1 - 5 of 5 for Peripheral axonal atrophy
  1. MFN2 gene 
    ... Bird T, Timmerman V, Shy M, Vance JM. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  2. GARS1 gene 
    ... a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006 Oct 11;26(41): ... Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  3. TRPV4 gene 
    ... to all TRPV4-related disorders as TRPV4-associated peripheral neuropathy and bony dysplasias (TRPV4-PNAB) or TRPV4- ... ng.945. Citation on PubMed McEntagart M. TRPV4 axonal neuropathy spectrum disorder. J Clin Neurosci. 2012 Jul; ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  4. HSPB1 gene 
    ... hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet. ... V. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor ...
    https://medlineplus.gov/genetics/gene/hspb1 - Genetics
  5. VRK1 gene 
    ... in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec;70( ... M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation ...
    https://medlineplus.gov/genetics/gene/vrk1 - Genetics