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Charcot-Marie-Tooth Neuropathy X

MedGen UID:
468447
•Concept ID:
CN118851
•
Disease or Syndrome
Related genes: AIFM1, PRPS1, GJB1

Authors:
Thomas D Bird   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
Am J Hum Genet 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. PMID: 20380929Free PMC Article
Genotypes & sensory phenotypes in 2 new X-linked neuropathies (CMTX3 and dSMAX) and dominant CMT/HMN overlap syndromes.
Nicholson G, Kennerson M, Brewer M, Garbern J, Shy M
Adv Exp Med Biol 2009;652:201-6. doi: 10.1007/978-90-481-2813-6_13. PMID: 20225027
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622

Recent clinical studies

Etiology

Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
Milley GM, Varga ET, Grosz Z, Bereznai B, Aranyi Z, Boczan J, Dioszeghy P, Kálmán B, Gal A, Molnar MJ
Neuromuscul Disord 2016 Oct;26(10):706-711. Epub 2016 Jul 27 doi: 10.1016/j.nmd.2016.07.012. PMID: 27544631
X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family.
Shu XM, Tian MQ, Li J, Peng LY, Yu XH
Neuropediatrics 2015 Dec;46(6):424-7. Epub 2015 Oct 19 doi: 10.1055/s-0035-1564619. PMID: 26479765

Diagnosis

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.
Kennerson ML, Warburton T, Nelis E, Brewer M, Polly P, De Jonghe P, Timmerman V, Nicholson GA
Clin Chem 2007 Feb;53(2):349-52. Epub 2007 Jan 2 doi: 10.1373/clinchem.2006.080010. PMID: 17200131

Prognosis

Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
Milley GM, Varga ET, Grosz Z, Bereznai B, Aranyi Z, Boczan J, Dioszeghy P, Kálmán B, Gal A, Molnar MJ
Neuromuscul Disord 2016 Oct;26(10):706-711. Epub 2016 Jul 27 doi: 10.1016/j.nmd.2016.07.012. PMID: 27544631

Clinical prediction guides

Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
Milley GM, Varga ET, Grosz Z, Bereznai B, Aranyi Z, Boczan J, Dioszeghy P, Kálmán B, Gal A, Molnar MJ
Neuromuscul Disord 2016 Oct;26(10):706-711. Epub 2016 Jul 27 doi: 10.1016/j.nmd.2016.07.012. PMID: 27544631
X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family.
Shu XM, Tian MQ, Li J, Peng LY, Yu XH
Neuropediatrics 2015 Dec;46(6):424-7. Epub 2015 Oct 19 doi: 10.1055/s-0035-1564619. PMID: 26479765

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