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Results 1 - 10 of 44 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. Pregnancy and Childbirth with Neuromuscular Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Women ... Neuromuscular Disorders ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/.../Quest17-3_Pregnancy_Series_revised_0.pdf - External Health Links
  6. 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
  7. 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
  8. Learning about Charcot-Marie-Tooth Disease From the National Institutes of Health (National Human Genome Research Institute)  
    Charcot-Marie-Tooth Disease/Genetics ... Charcot-Marie-Tooth Disease ... National Human Genome Research Institute ... From the National Institutes of Health ... Charcot-Marie- ...
    https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease - External Health Links
  9. 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
  10. 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
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