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Results 1 - 10 of 22 for "Charcot-Marie-Tooth" disease type 5
  1. Charcot-Marie-Tooth disease 
    ... CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  2. Distal hereditary motor neuropathy, type V 
    ... 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/...distal-hereditary-motor-neuropathy-type-v - 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) ...
    https://medlineplus.gov/genetics/gene/kif1b - Genetics
  4. 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
  5. Yuan-Harel-Lupski syndrome 
    ... legs. Similar features are seen in individuals with type 1A Charcot-Marie-Tooth disease, although they may appear earlier in people with YUHAL syndrome, often before age 5.Abnormal development of other tissues and organs, such ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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