Congenital fibre type disproportion a time-locked diagnosis: A clinical and morphological follow-up study

This is the first report that describes the clinical and histological findi ngs in a patient suffering from pure congenital fibre type disproportion (C FTD), who had two biopsies with an interval of 16 years. Additionally, we c ompared the clinical signs and symptoms of the present case to those of 35 CFTD cases reviewed from the literature. From this we conclude that smallne ss of type I fibre diameter is not a characteristic feature during the cour se of pure CFTD. This suggests that CFTD is a time-locked diagnosis. (C) 20 00 Elsevier Science B.V. All rights reserved.