Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J
Reza Sadjadi,
Vincent Picher-Martel,
Jasper M. Morrow
et al.
Abstract:Background and ObjectivesCharcot-Marie-Tooth disease type 4J (CMT4J) is caused by autosomal recessive variants in the Factor-Induced Gene 4 (FIG4) gene. Recent preclinical work has demonstrated the feasibility of adenoassociated virus serotype 9-FIG4 gene therapy. This study aimed to further characterize the CMT4J phenotype and evaluate feasibility of validated CMT-related outcome measures for future clinical trials.
MethodsThis cross-sectional study enrolled children and adults with genetically confirmed CMT4… Show more
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