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Results 1 - 10 of 27 for "Charcot-Marie-Tooth" disease type 4
  1. Charcot-Marie-Tooth disease 
    ... LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE- ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  2. HSPB8 gene 
    ... heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet. 2005 Feb;116(3):222-4. doi: 10.1007/s00439-004-1218-3. Epub ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  3. KIF1B gene 
    ... Saito M, Tsuji S, Hayashi Y, Hirokawa N. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001 Jun 1;105(5):587-97. doi: 10.1016/s0092-8674(01)00363-4. Citation on PubMed
    https://medlineplus.gov/genetics/gene/kif1b - Genetics
  4. Hereditary Neuropathies From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... affect the peripheral nervous system. The most common type is Charcot-Marie-Tooth disease.
    https://www.ninds.nih.gov/.../disorders/hereditary-neuropathies - External Health Links
  5. Exercising with a Muscle Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Living With ... Neuromuscular Disorders ... Muscular Dystrophy Association ... muscular dystrophy; exercise with a disability; neuromuscular ...
    https://www.mda.org/.../files/MDA_Quest_Excercise_Package_2009.pdf - External Health Links
  6. 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
  7. 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
  8. MPZ gene 
    ... MPZ gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 1B. Charcot-Marie-Tooth syndrome is a disorder ... in the MPZ gene cause other forms of Charcot-Marie-Tooth disease known as type 2I, type 2J, and dominant intermediate D. These ...
    https://medlineplus.gov/genetics/gene/mpz - Genetics
  9. Chromosome 17 
    ... includes the PMP22 gene causes most cases of 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
  10. 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 2025 ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
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