#psat1

Two new and treatable cases of peripheral neuropathy reported in children raise more questions about the definition and diagnosis of CMT types.

Steve Bryson at CMT News has a nice breakdown of new findings in China that some variants (mutations) in the PSAT1 gene [NIH, GeneCards] can result the cluster of symptoms commonly associated with the CMT family of polyneuropathy/neuromuscular diseases. There are several unusual and interesting features of these two pediatric CMT cases where mobility was seriously impaired in the feet and legs —…