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Charcot-Marie-Tooth Disease Type 2C

Distal hereditary motor neuronopathy type 2C
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Charcot-Marie-Tooth Disease Type 2C" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Charcot-Marie-Tooth Disease Type 2C" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Charcot-Marie-Tooth Disease Type 2C" returned 1 free, full-text research articles. First 1 results:
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Last Updated: Nov 13, 2018

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified ...

Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.
Last Updated: Oct 25, 2019

Charcot- Marie-Tooth disease type 2 is clinically and genetically heterogeneous. A particular clinical subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by diaphragm and vocal cord paralysis, is labelled Charcot-Marie-Tooth disease type 2C but no genetic ...

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