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Results 1 - 10 of 27 for "Charcot-Marie-Tooth" "disease," type 2
  1. BSCL2 gene 
    ... P, Timmerman V, de Visser M. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology. 2007 May 15;68(20):1658-67. doi: 10.1212/01.wnl.0000263479.97552.94. Citation on PubMed Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  2. 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 ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
  3. 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
  4. Yuan-Harel-Lupski syndrome 
    ... condition that has a combination of features of two other disorders, Potocki-Lupski syndrome and type 1A Charcot-Marie-Tooth disease.The first signs and symptoms of YUHAL syndrome ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  5. Charcot-Marie-Tooth disease 
    ... genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  6. SETX gene 
    ... characteristic movement problems of ataxia with oculomotor apraxia type 2. More About This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition ALS4 AOA2 KIAA0625 ...
    https://medlineplus.gov/genetics/gene/setx - Genetics
  7. HSPB1 gene 
    ... 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
  8. HSPB8 gene 
    ... review. J Neurosci Res. 2008 Feb 1;86(2):264-9. doi: 10.1002/jnr.21441. ... dominant Charcot-Marie-Tooth disease type 2L. Hum Genet. 2005 Feb;116(3):222- ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  9. PMP22 gene 
    ... is the most common genetic change that causes Charcot-Marie-Tooth disease type 1A (CMT1A). The extra gene leads to an ... experienced by some people with a form of Charcot-Marie-Tooth disease called type 1E (CMT1E). CMT1E is associated with particular amino ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  10. DNM2 gene 
    ... mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings. Neuromuscul Disord. 2008 ... L, Rizzuto N. Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology. 2007 Jul 17;69(3):291-5. ...
    https://medlineplus.gov/genetics/gene/dnm2 - Genetics
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