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Results 1 - 10 of 17 for "Charcot-Marie-Tooth" Neuropathy X
  1. GJB1 gene 
    ... gap junction protein, beta 1, 32kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked) Tests of GJB1 PubMed GAP JUNCTION PROTEIN, BETA-1; GJB1 NCBI Gene ClinVar Abrams CK, Freidin M. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  2. Charcot-Marie-Tooth disease 
    ... 9. Citation on PubMed Kim JW, Kim HJ. Charcot-Marie-Tooth Neuropathy X Type 5 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. ... PubMed Wang Y, Yin F. A Review of X-linked Charcot-Marie-Tooth Disease. J Child Neurol. 2016 ... Epub 2015 Sep 18. Citation on PubMed
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  3. PRPS1 gene 
    ... article on PubMed Central Kim JW, Kim HJ. Charcot-Marie-Tooth Neuropathy X Type 5 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. ...
    https://medlineplus.gov/genetics/gene/prps1 - Genetics
  4. MFN2 gene 
    ... Hayasaka K. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet. 2005 Jan;116(1- ... Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004 May;36(5): ...
    https://medlineplus.gov/genetics/gene/mfn2 - Genetics
  5. PMP22 gene 
    ... 002-0130-z. Citation on PubMed Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 Apr 25]. ... doi: 10.1111/j.1399-0004.2008.01120.x. Epub 2008 Nov 29. Citation on PubMed ... proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217- ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  6. HSPB8 gene 
    ... PROTEIN 8; HSPB8 NCBI Gene ClinVar Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 Apr 25]. ... 2174/156652411797536714. Citation on PubMed Fontaine JM, Sun X, Hoppe ... involving neuropathy-associated HSP22 (HSPB8) mutants. FASEB J. 2006 Oct; ...
    https://medlineplus.gov/genetics/gene/hspb8 - Genetics
  7. Foot drop 
    ... Diabetes is the most common cause of peripheral neuropathy. Charcot-Marie-Tooth disease is a common inherited peripheral neuropathy. Some ...
    https://medlineplus.gov/ency/article/007761.htm - Medical Encyclopedia
  8. DNM2 gene 
    ... DYNAMIN 2; DNM2 NCBI Gene ClinVar Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2024 Apr 25]. ... doi: 10.1111/j.1600-0854.2004.00199.x. Citation on PubMed Zuchner ... intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289- ...
    https://medlineplus.gov/genetics/gene/dnm2 - Genetics
  9. Giant axonal neuropathy 
    ... disorders affecting the peripheral nervous system, such as Charcot-Marie-Tooth disease. Giant axonal neuropathy is caused by mutations in the GAN gene, ...
    https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy - Genetics
  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 neuropathy Gamstorp-Wohlfart syndrome Myokymia, myotonia, and muscle wasting ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
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