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Results 1 - 10 of 24 for "Charcot-Marie-Tooth" disease type X
  1. Charcot-Marie-Tooth disease 
    ... can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on ... the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result from a new mutation and occur in ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  2. GJB1 gene 
    ... than 400 GJB1 gene mutations in people with type X Charcot-Marie-Tooth disease, a disorder characterized by muscle weakness and sensory problems, especially in the hands and feet. A few of these mutations also ... individuals with this type of Charcot-Marie-Tooth disease.Most GJB1 gene ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  3. Types of CMT (Muscular Dystrophy Association)  
    Charcot-Marie-Tooth Disease/Specifics ... Charcot-Marie-Tooth Disease ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and ...
    https://www.mda.org/disease/charcot-marie-tooth/types - External Health Links
  4. SETX gene 
    ... characteristic movement problems of ataxia with oculomotor apraxia type 2. More About This Health Condition MedlinePlus ... Becherel OJ, Yeo AJ, Stellati A, Heng EY, Luff J, Suraweera AM, Woods R, Fleming J, Carrie D, McKinney K, Xu X, Deng C, Lavin MF. Senataxin plays an essential ...
    https://medlineplus.gov/genetics/gene/setx - Genetics
  5. MFN2 gene 
    ... Vignal O, Cazeneuve C, Brice A, Leguern E. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic ... of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Exp Neurol. 2009 Aug;218(2):268- ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  6. 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
  7. Chromosome 17 
    ... changes affecting the PMP22 gene, it is called Charcot-Marie-Tooth disease type 1A, or CMT1A. Charcot-Marie-Tooth disease damages the peripheral nerves, which connect the ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  8. HSPB8 gene 
    ... heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet. 2005 Feb;116(3):222- ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  9. Causes of Charcot-Marie-Tooth Disease (CMT) (Muscular Dystrophy Association)  
    Charcot-Marie-Tooth Disease/Genetics ... Charcot-Marie-Tooth Disease ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and ...
    https://www.mda.org/disease/charcot-marie-tooth/causes-inheritance - External Health Links
  10. 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 ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
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