Fifty 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 years showed that although initially the condition was moderately non-progressive, progression of a significant degree did eventually occur. Histopathological and electron microscopic data were available from muscle biopsies carried out at the ages of 19 and 55 years, and show a marked predominance of type 1 fibres with central cores in most fibres at both ages. The four mutations within the RYR1 gene described in association with CCD and three of the more common malignant hyperthermia-associated mutations within RYR1 were not present.
University Department of Clinical Neurology, Institute of Neurology, London, UK.
P J
PJ
Lamont
V
V
Dubowitz
D N
DN
Landon
M
M
Davis
J A
JA
Morgan-Hughes
D004247:DNA / Q000235:genetics; D018450:Disease Progression; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D013997:Time Factors
D004247:DNA