Amanda Dragon
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View article: Feasibility, Validity, and Reliability of the Virtual <scp>CMT</scp> Infant Toddler Scale (<scp>vCMTInfS</scp>): A Remote Evaluation of Infants/Toddlers With <scp>CMT</scp>
Feasibility, Validity, and Reliability of the Virtual <span>CMT</span> Infant Toddler Scale (<span>vCMTInfS</span>): A Remote Evaluation of Infants/Toddlers With <span>CMT</span> Open
Background and Aims The CMT Infant Scale (CMTInfS) enables evaluation of infants/toddlers in clinic. Our aim was to evaluate the feasibility, reliability, and validity of a virtual version of the CMTInfS (vCMTInfS). Methods Children aged 5…
View article: Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to <i>GJB1</i> variants Open
Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many…