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Results 1 - 7 of 7 for Peripheral axonal atrophy
  1. Autosomal recessive axonal neuropathy with neuromyotonia 
    ... caused by damage to a particular part of peripheral nerves called axons, ... weakness and wasting (atrophy) of muscles in the feet, legs, and hands. ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
  2. 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
  3. Charcot-Marie-Tooth disease 
    ... HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY; HMSN6B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P; CMT2P PubMed Ando M, Higuchi Y, ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  4. 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
  5. 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
  6. 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
  7. 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