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Results 1 - 9 of 9 for "Charcot-Marie-Tooth" disease axonal type 2S
  1. Autosomal recessive axonal neuropathy with neuromyotonia 
    ... symptoms of the condition. ARAN-NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia Autosomal recessive neuromyotonia and axonal neuropathy Gamstorp-Wohlfart syndrome Myokymia, myotonia, and muscle ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
  2. HSPB1 gene 
    ... V. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and ... and sporadic distal HMN/CMT type 2. Neurology. 2008 Nov 18;71(21):1660- ...
    https://medlineplus.gov/genetics/gene/hspb1 - Genetics
  3. Charcot-Marie-Tooth disease 
    ... CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  4. MFN2 gene 
    ... of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Exp Neurol. 2009 Aug;218(2):268-73. doi: 10.1016/j.expneurol.2009. ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  5. DNM2 gene 
    ... L, Rizzuto N. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology. 2007 Jul 17;69(3):291-5. doi: 10.1212/01.wnl.0000265820.51075.61. Citation on PubMed Jeub ... 2-related centronuclear myopathy: clinical, histological and genetic aspects ...
    https://medlineplus.gov/genetics/gene/dnm2 - Genetics
  6. MPZ gene 
    ... modelling of novel MPZ mutations in demyelinating and axonal neuropathies. Eur J Hum ... disease. Neuromolecular Med. 2006;8(1-2):217-42. doi: 10.1385/nmm:8:1- ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  7. GARS1 gene 
    ... Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain ... disease-associated mutant tRNA synthetases linked to altered dimer ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  8. TRPV4 gene 
    ... neurological disorders. This spectrum of related conditions includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  9. Charcot-Marie-Tooth Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Charcot-Marie-Tooth Disease/Start Here ... Charcot-Marie-Tooth Disease ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of ...
    https://www.ninds.nih.gov/.../disorders/charcot-marie-tooth-disease - External Health Links