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Results 1 - 10 of 18 for "Charcot-Marie-Tooth" disease type 5
  1. 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) ...
    https://medlineplus.gov/genetics/gene/kif1b - Genetics
  2. GARS1 gene 
    ... KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 ...
    https://medlineplus.gov/genetics/gene/gars1 - Genetics
  3. HSPB8 gene 
    ... axons is unclear. ... distal hereditary motor neuropathy, type II. This disorder is characterized by progressive weakness, ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  4. NAGLU gene 
    ... This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About ... Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis. 2005;28(5):759-67. doi: 10.1007/s10545-005-0093- ...
    https://medlineplus.gov/genetics/gene/naglu - 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. 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
  8. 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
  9. TRPV4 gene 
    ... neurological disorders. This spectrum of related conditions includes Charcot-Marie-Tooth disease type 2C, congenital distal spinal muscular atrophy, which is ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  10. GJB1 gene 
    ... than 400 GJB1 gene mutations in people with type X Charcot-Marie-Tooth disease, a disorder characterized by muscle weakness and sensory ... also cause hearing loss in individuals with this type of Charcot-Marie-Tooth disease.Most GJB1 gene mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
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