50 YEAR FOLLOW-UP OF A PATIENT WITH CENTRAL CORE DISEASE SHOWS SLOW BUT DEFINITE PROGRESSION

The follow-up of a patient with central core disease (CCD) over 50 yea rs showed that although initially the condition was moderately non-pro gressive, progression of a significant degree did eventually occur. Hi stopathological and electron microscopic data were available from musc le biopsies carried out at the ages of 19 and 55 years, and show a mar ked predominance of type 1 fibres with central cores in most fibres at both ages. The four mutations within the RYR1 gene described in assoc iation with CCD and three of the more common malignant hyperthermia-as sociated mutations within RYR1 were not present. (C) 1998 Elsevier Sci ence B.V. All rights reserved.