CMT2A:Charcot
Charcot
2021年11月19日—CMT2A.CMT2subtypeA(CMT2A)isthemostcommonformofCMT2.ItiscausedbydominantlyinheritedmutationsintheMFN2gene,locatedon ...。其他文章還包含有:「ANaturalHistoryStudyofCMT1B」、「Charcot-Marie」、「Clinicalandgeneticfeaturesofacohortofpatientswith...」、「CMT2-TypesofCharcot」、「CMT2AGuide:Symptoms」、「CMT2AResearch」、「LamalattiadiCharcot」、「NaturalhistoryofCharcot」
查看更多 離開網站Charcot-Marie-Toothdiseasetype2(CMT2)isatypeofCMTwhosegeneticdefects,ormutations,disruptthestructureandfunctionofaxons—thelongprojectionsofnervecellsthatconductsignalstothenextnervecellormusclecell.Thisdamagetoaxonsresultsintheslowtransmissionofnervesignalsfromthebraintothemuscles,andviceversa.Forthisreason,CMT2oftenisreferredtoas“axonalCMT.”CMT2islesscommonthan CMT1[1] andaccountsforabout 12%to36%[2]ofallCMTcases.SymptomsCMT2symptomsaresimilartothoseofCMT1,withvariationintheageofonsetandthe...
A Natural History Study of CMT1B
https://www.ncbi.nlm.nih.gov
A Natural History Study of CMT1B, CMT2A, CMT4A and CMT4C · Patient has one known disease causing mutation and one variant that is listed as disease causing per ...
Charcot-Marie
https://www.sciencedirect.com
Mutations in the gene encoding MFN2 have been identified as associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder ...
Clinical and genetic features of a cohort of patients with ...
https://www.nature.com
CMT2A was defined as inherited axonal neuropathy with nerve conduction velocities in the upper extremity > 38 m/s associated with MFN2 mutations ...
CMT2 - Types of Charcot
https://www.mda.org
CMT2A is the most common subtype of CMT2 (it accounts for 20% of the cases of axonal CMT) and is caused by defects in the MFN2 gene. The MFN2 gene encodes ...
CMT2A Guide: Symptoms
https://cmtrf.org
CMT2A is caused by mutations in a gene called MFN2, which produces the protein mitofusin-2. As a type 2 CMT, CMT2A is characterized by dysfunction of axons — ...
CMT2A Research
https://www.cmtausa.org
Learn about CMT2A research projects the CMTA is funding and learn more about how we collaborate with STAR Biotech Alliance Partners.
La malattia di Charcot
https://www.centrodinoferrari.
La CMT2A è una malattia ad ereditarietà autosomica dominante caratterizzata da progressiva debolezza muscolare, associata ad atrofia, perdita di sensibilità e ...
Natural history of Charcot
https://www.ncbi.nlm.nih.gov
CMT2A is a progressive disease with regards to length-dependent weakness and sensory loss and a cross-sectional analysis of the baseline data of ...