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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC

Known as: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC, CMT2CC 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal dominant inheritanceCavovarus deformity of footTalipes cavus

Papers overview

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2017
2017
Axonal Charcot‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and… 
2017
2017
CMT2CC family caused by translational elongation of cryptic amyloidogenic element in the 3’-UTR of NEFH
2017
2017
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death
Neurofilament heavy chain (NEFH) gene was recently identified to cause autosomal dominant axonal Charcot-Marie-Tooth disease… 
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