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CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6

Known as: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6, CMTX6 
National Institutes of Health

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Talipes cavus

Papers overview

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2020
2020
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation
Charcot-Marie-Tooth (CMT) is a group of inherited diseases clinically and genetically heterogenous, characterised by length… 
2015
2015
Understanding the pathogenic mechanisms underlying the X-linked Charcot-Marie-Tooth neuropathy (CMTX6) caused by the R158H PDK3 mutation
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