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CMT2A

「CMT2A」文章包含有:「ANaturalHistoryStudyofCMT1B」、「Charcot」、「Charcot-Marie」、「Clinicalandgeneticfeaturesofacohortofpatientswith...」、「CMT2-TypesofCharcot」、「CMT2AGuide:Symptoms」、「CMT2AResearch」、「LamalattiadiCharcot」、「NaturalhistoryofCharcot」

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CMT2charcot-marie-tooth disease
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A Natural History Study of CMT1B
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 ...

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Charcot
Charcot

https://charcot-marie-toothnew

CMT2A. CMT2 subtype A (CMT2A) is the most common form of CMT2. It is caused by dominantly inherited mutations in the MFN2 gene, located on ...

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Charcot-Marie
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 ...

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Clinical and genetic features of a cohort of patients with ...
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 ...

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CMT2 - Types of Charcot
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 ...

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CMT2A Guide: Symptoms
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 — ...

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CMT2A Research
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.

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La malattia di Charcot
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 ...

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Natural history of Charcot
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 ...