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Results 1 - 10 of 30 for "Charcot-Marie-Tooth" disease type 4
  1. ... SENSORY LARGE MYELINATED FIBERS CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE- ...
  2. ... 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 ...
  3. ... 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. Erratum In: Cell 2001 Jul 13;106(1): ...
  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.
  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 ...
  6. ... 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- ...
  7. ... 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 ...
  8. ... 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 ...
  9. ... 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 ...
  10. ... 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 ...
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